Linked Data
dbSNP Id:
rs763798359
ExAC:
Y:14902418 G / A
gnomAD v2:
Y-14902418-G-A
gnomAD v3:
Y-12790485-G-A
gnomAD v4:
Y-12790485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12790485G>A , CM000686.2:g.12790485G>A | GRCh38 |
| NC_000024.9:g.14902418G>A , CM000686.1:g.14902418G>A | GRCh37 |
| NC_000024.8:g.13411812G>A | NCBI36 |
| NG_008311.1:g.94259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.3640G>A | ENSP00000498372.1:p.Val1214Ile | |
| ENST00000338981.7:c.3640G>A MANE Select | ENSP00000342812.3:p.Val1214Ile | |
| ENST00000426564.6:n.3652G>A | ||
| NM_004654.3:c.3640G>A | NP_004645.2:p.Val1214Ile | |
| XM_011531469.1:c.3640G>A | XP_011529771.1:p.Val1214Ile | |
| XM_011531470.1:c.3406G>A | XP_011529772.1:p.Val1136Ile | |
| XM_017030078.2:c.3655G>A | XP_016885567.1:p.Val1219Ile | |
| NM_004654.4:c.3640G>A MANE Select | NP_004645.2:p.Val1214Ile |