ABO > ABO*O.02.03
Allele Information
X
X
Edit Public Comment
Last Edited By
Date Of Last Edit
Private Comments
User
Date
Edit
Delete
Add A Private Comment:
Edit Private Comment:
Confirm Deletion Of Comment:
Phenotypes
A
B
A,B
A1
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.53G>T | p.Arg18Leu | Exon 2 | chr9:136,137,553 | chr9:133,262,137 |
|
||
c.220C>T | p.Pro74Ser | Exon 5 | chr9:136,133,508 | chr9:133,258,092 |
|
||
c.297A>G | Exon 6 | chr9:136,132,873 | chr9:133,257,457 |
|
|||
c.526C>G | p.Arg176Gly | Exon 7 | chr9:136,131,592 | chr9:133,256,176 |
|
||
c.689G>A | p.Gly230Asp | Exon 7 | chr9:136,131,429 | chr9:133,256,013 |
|
||
c.802G>A | p.Gly268Arg | Exon 7 | chr9:136,131,316 | chr9:133,255,900 |
|
Sequence
None
Publication
None