Linked Data
ClinVar Variation Id:
452745
ClinVar RCV Id:
RCV000521678
dbSNP Id:
rs752320782
ExAC:
4:126337750 G / A
gnomAD v2:
4-126337750-G-A
gnomAD v4:
4-125416595-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125416595G>A , CM000666.2:g.125416595G>A | GRCh38 |
| NC_000004.11:g.126337750G>A , CM000666.1:g.126337750G>A | GRCh37 |
| NC_000004.10:g.126557200G>A | NCBI36 |
| NG_033865.1:g.105184G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394329.9:c.6991G>A MANE Select | ENSP00000377862.4:p.Val2331Ile | |
| ENST00000674496.2:c.1762G>A | ENSP00000501473.2:p.Val588Ile | |
| ENST00000335110.5:c.1885G>A | ENSP00000335169.5:p.Val629Ile | |
| ENST00000394329.7:c.6991G>A | ENSP00000377862.3:p.Val2331Ile | |
| NM_001291285.1:c.6991G>A | NP_001278214.1:p.Val2331Ile | |
| NM_001291303.1:c.6991G>A | NP_001278232.1:p.Val2331Ile | |
| NM_024582.4:c.6991G>A | NP_078858.4:p.Val2331Ile | |
| XM_011532236.1:c.6991G>A | XP_011530538.1:p.Val2331Ile | |
| XM_011532237.1:c.1762G>A | XP_011530539.1:p.Val588Ile | |
| XM_011532236.2:c.6991G>A | XP_011530538.1:p.Val2331Ile | |
| XM_011532237.2:c.1762G>A | XP_011530539.1:p.Val588Ile | |
| NM_001291285.2:c.6991G>A | NP_001278214.1:p.Val2331Ile | |
| NM_001291303.3:c.6991G>A MANE Select | NP_001278232.1:p.Val2331Ile | |
| NM_024582.5:c.6991G>A | NP_078858.4:p.Val2331Ile | |
| NM_001291285.3:c.6991G>A | NP_001278214.1:p.Val2331Ile | |
| NM_024582.6:c.6991G>A | NP_078858.4:p.Val2331Ile |