Linked Data
ClinVar Variation Id:
360332
dbSNP Id:
rs201687417
ExAC:
7:4827887 A / G
gnomAD v2:
7-4827887-A-G
gnomAD v3:
7-4788256-A-G
gnomAD v4:
7-4788256-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4788256A>G , CM000669.2:g.4788256A>G | GRCh38 |
| NC_000007.13:g.4827887A>G , CM000669.1:g.4827887A>G | GRCh37 |
| NC_000007.12:g.4794413A>G | NCBI36 |
| NG_028111.1:g.17626A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1315A>G | ||
| ENST00000496303.6:n.1385A>G | ||
| ENST00000647984.1:c.*902A>G | ENSP00000497794.1:n.*902A>G | |
| ENST00000648360.1:c.167A>G | ||
| ENST00000648925.1:c.1557A>G | ENSP00000496830.1:p.Gln519= | |
| ENST00000649063.2:c.1557A>G MANE Select | ENSP00000497815.1:p.Gln519= | |
| ENST00000649315.1:c.1054A>G | ||
| ENST00000649419.1:n.1436A>G | ||
| ENST00000649736.1:n.420A>G | ||
| ENST00000650310.1:c.*128A>G | ENSP00000497395.1:n.*128A>G | |
| ENST00000650581.1:c.359A>G | ||
| ENST00000348624.4:c.1557A>G | ENSP00000297562.4:p.Gln519= | |
| ENST00000469614.1:n.31A>G | ||
| ENST00000477454.1:n.338A>G | ||
| ENST00000477680.5:n.1315A>G | ||
| ENST00000496303.5:n.1621A>G | ||
| NM_014855.2:c.1557A>G | NP_055670.1:p.Gln519= | |
| XR_242109.1:n.1620A>G | ||
| NM_001364858.1:c.1089A>G | NP_001351787.1:p.Gln363= | |
| NM_014855.3:c.1557A>G MANE Select | NP_055670.1:p.Gln519= | |
| NR_157345.1:n.1688A>G |