MNS > GYPB*03N.02 or GYP*He(NY)
Allele Information
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Phenotypes
M
N
S
s
U
He
Mia
Mc
Vw
Mur
Mg
Vr
Me
Mta
Sta
Ria
Cla
Nya
Hut
Hil
Mv
Far
sD
Mit
Dantu
Hop
Nob
Ena
ENKT
`N'
Or
DANE
TSEN
MINY
MUT
SAT
ERIK
Osa
ENEP
ENEH
HAG
ENAV
MARS
ENDA
ENEV
MNTD
SARA
KIPP
JENU
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.59T>G | Exon 2 | chr4:144,922,415 | chr4:144,001,262 | ||||
c.60A>G | Exon 2 | chr4:144,922,414 | chr4:144,001,261 | ||||
c.67A>T | p.Thr23Ser | Exon 2 | chr4:144,922,407 | chr4:144,001,254 | |||
c.71A>G | p.Glu24Gly | Exon 2 | chr4:144,922,403 | chr4:144,001,250 | |||
c.72G>T | Exon 2 | chr4:144,922,402 | chr4:144,001,249 | ||||
c.143C>T | p.Thr48Met | Exon 3 | chr4:144,920,596 | chr4:143,999,443 | |||
c.208G>T | p.Val70Leu | Exon 4 | chr4:144,918,755 | chr4:143,997,602 | |||
c.230C>T | p.Thr77Met | Exon 4 | chr4:144,918,733 | chr4:143,997,580 | |||
c.251C>G | p.Thr84Ser | Exon 4 | chr4:144,918,712 | chr4:143,997,559 |
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Sequence
None
Publication
None