Linked Data
ClinVar Variation Id:
360337
dbSNP Id:
rs374673921
ExAC:
7:4829549 C / T
gnomAD v2:
7-4829549-C-T
gnomAD v3:
7-4789918-C-T
gnomAD v4:
7-4789918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4789918C>T , CM000669.2:g.4789918C>T | GRCh38 |
| NC_000007.13:g.4829549C>T , CM000669.1:g.4829549C>T | GRCh37 |
| NC_000007.12:g.4796075C>T | NCBI36 |
| NG_028111.1:g.19288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1552C>T | ||
| ENST00000496303.6:n.1622C>T | ||
| ENST00000647984.1:c.*1139C>T | ENSP00000497794.1:n.*1139C>T | |
| ENST00000648237.1:c.82C>T | ||
| ENST00000648360.1:c.404C>T | ||
| ENST00000648925.1:c.1794C>T | ENSP00000496830.1:p.Ala598= | |
| ENST00000649063.2:c.1794C>T MANE Select | ENSP00000497815.1:p.Ala598= | |
| ENST00000649315.1:c.1291C>T | ||
| ENST00000649419.1:n.1673C>T | ||
| ENST00000649736.1:n.657C>T | ||
| ENST00000650310.1:c.*365C>T | ENSP00000497395.1:n.*365C>T | |
| ENST00000650581.1:c.596C>T | ||
| ENST00000348624.4:c.1794C>T | ENSP00000297562.4:p.Ala598= | |
| ENST00000469614.1:n.813C>T | ||
| ENST00000477680.5:n.1552C>T | ||
| ENST00000490487.1:n.82C>T | ||
| ENST00000496303.5:n.1858C>T | ||
| NM_014855.2:c.1794C>T | NP_055670.1:p.Ala598= | |
| NM_001364858.1:c.1326C>T | NP_001351787.1:p.Ala442= | |
| NM_014855.3:c.1794C>T MANE Select | NP_055670.1:p.Ala598= | |
| NR_157345.1:n.1925C>T |