Linked Data
ClinVar Variation Id:
286265
dbSNP Id:
rs373070679
ExAC:
7:157177684 G / A
gnomAD v2:
7-157177684-G-A
gnomAD v3:
7-157384990-G-A
gnomAD v4:
7-157384990-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157384990G>A , CM000669.2:g.157384990G>A | GRCh38 |
| NC_000007.13:g.157177684G>A , CM000669.1:g.157177684G>A | GRCh37 |
| NC_000007.12:g.156870445G>A | NCBI36 |
| NG_032573.1:g.52975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.602G>A MANE Select | ENSP00000262177.4:p.Arg201Lys | |
| ENST00000262177.8:c.602G>A | ENSP00000262177.4:p.Arg201Lys | |
| ENST00000417758.5:c.602G>A | ENSP00000400665.1:p.Arg201Lys | |
| ENST00000429029.6:c.602G>A | ENSP00000397556.2:p.Arg201Lys | |
| ENST00000443280.5:c.346+17507G>A | ENSP00000396267.1:n.346+17507G>A | |
| ENST00000459889.5:c.602G>A | ENSP00000488263.1:p.Arg201Lys | |
| ENST00000465908.5:n.398G>A | ||
| ENST00000487480.1:n.4377G>A | ||
| ENST00000634080.1:c.602G>A | ENSP00000488740.1:p.Arg201Lys | |
| NM_005494.2:c.602G>A | NP_005485.1:p.Arg201Lys | |
| NM_058246.3:c.602G>A | NP_490647.1:p.Arg201Lys | |
| XM_005249515.2:c.602G>A | XP_005249572.1:p.Arg201Lys | |
| XM_005249516.2:c.602G>A | XP_005249573.1:p.Arg201Lys | |
| XM_006715823.1:c.602G>A | XP_006715886.1:p.Arg201Lys | |
| XM_011515704.1:c.602G>A | XP_011514006.1:p.Arg201Lys | |
| NM_001363676.1:c.346+17507G>A | NP_001350605.1:n.346+17507G>A | |
| XM_005249515.3:c.602G>A | XP_005249572.1:p.Arg201Lys | |
| XM_006715823.2:c.602G>A | XP_006715886.1:p.Arg201Lys | |
| NM_058246.4:c.602G>A MANE Select | NP_490647.1:p.Arg201Lys | |
| NM_005494.3:c.602G>A | NP_005485.1:p.Arg201Lys |