Rh > RHCE*01.20.11 RHCE*ce.20.11 RHCE*ceVS.11
Allele Information
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Phenotypes
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.48G>C | p.Trp16Cys | Exon 1 |
|
chr1:25,747,230 | chr1:25,420,739 |
|
|
| c.186G>T | p.Leu62Phe | Exon 2 |
|
chr1:25,735,323 | chr1:25,408,832 |
|
|
| c.410C>T | p.Ala137Val | Exon 3 |
|
chr1:25,729,163 | chr1:25,402,672 |
 |
|
| c.455A>C | Exon 3 |
|
chr1:25,729,118 | chr1:25,402,627 |
|
||
| c.733C>G | p.Leu245Val | Exon 5 |
|
chr1:25,717,308 | chr1:25,390,817 |
|
|
| c.1006G>T | p.Gly336Cys | Exon 7 |
|
chr1:25,712,269 | chr1:25,385,778 |
|
Sequence
None
Publication
None