Linked Data
ClinVar Variation Id:
375313
dbSNP Id:
rs373919408
ExAC:
7:4827275 G / A
gnomAD v2:
7-4827275-G-A
gnomAD v3:
7-4787644-G-A
gnomAD v4:
7-4787644-G-A
PubMed:
PMID:24833714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4787644G>A , CM000669.2:g.4787644G>A | GRCh38 |
| NC_000007.13:g.4827275G>A , CM000669.1:g.4827275G>A | GRCh37 |
| NC_000007.12:g.4793801G>A | NCBI36 |
| NG_028111.1:g.17014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1080G>A | ||
| ENST00000496303.6:n.1150G>A | ||
| ENST00000647984.1:c.*667G>A | ENSP00000497794.1:n.*667G>A | |
| ENST00000648765.1:n.645G>A | ||
| ENST00000648925.1:c.1322G>A | ENSP00000496830.1:p.Trp441Ter | |
| ENST00000649063.2:c.1322G>A MANE Select | ENSP00000497815.1:p.Trp441Ter | |
| ENST00000649315.1:c.819G>A | ||
| ENST00000649419.1:n.1201G>A | ||
| ENST00000650310.1:c.1360G>A | ENSP00000497395.1:p.Gly454Arg | |
| ENST00000650581.1:c.124G>A | ||
| ENST00000348624.4:c.1322G>A | ENSP00000297562.4:p.Trp441Ter | |
| ENST00000477454.1:n.103G>A | ||
| ENST00000477680.5:n.1080G>A | ||
| ENST00000496303.5:n.1386G>A | ||
| NM_014855.2:c.1322G>A | NP_055670.1:p.Trp441Ter | |
| XR_242109.1:n.1385G>A | ||
| NM_001364858.1:c.854G>A | NP_001351787.1:p.Trp285Ter | |
| NM_014855.3:c.1322G>A MANE Select | NP_055670.1:p.Trp441Ter | |
| NR_157345.1:n.1453G>A |