Linked Data
dbSNP Id:
rs776794803
ExAC:
Y:14889961 G / A
gnomAD v3:
Y-12778027-G-A
gnomAD v4:
Y-12778027-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12778027G>A , CM000686.2:g.12778027G>A | GRCh38 |
| NC_000024.9:g.14889961G>A , CM000686.1:g.14889961G>A | GRCh37 |
| NC_000024.8:g.13399355G>A | NCBI36 |
| NG_008311.1:g.81802G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.2648G>A | ENSP00000498372.1:p.Arg883His | |
| ENST00000338981.7:c.2648G>A MANE Select | ENSP00000342812.3:p.Arg883His | |
| ENST00000426564.6:n.2660G>A | ||
| NM_004654.3:c.2648G>A | NP_004645.2:p.Arg883His | |
| XM_011531469.1:c.2648G>A | XP_011529771.1:p.Arg883His | |
| XM_011531470.1:c.2414G>A | XP_011529772.1:p.Arg805His | |
| XM_017030078.2:c.2663G>A | XP_016885567.1:p.Arg888His | |
| NM_004654.4:c.2648G>A MANE Select | NP_004645.2:p.Arg883His |