gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00076806 (AMR)
Genomes Max Group AF
0.00180256 (AMR)
Exomes Max Group AF
0.00039867 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4784966C>T , CM000669.2:g.4784966C>T | GRCh38 |
| NC_000007.13:g.4824597C>T , CM000669.1:g.4824597C>T | GRCh37 |
| NC_000007.12:g.4791123C>T | NCBI36 |
| NG_028111.1:g.14336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.607C>T | ||
| ENST00000496303.6:n.677C>T | ||
| ENST00000647628.1:n.340C>T | ||
| ENST00000647984.1:c.*194C>T | ENSP00000497794.1:n.*194C>T | |
| ENST00000648925.1:c.849C>T | ENSP00000496830.1:p.Ala283= | |
| ENST00000649063.2:c.849C>T MANE Select | ENSP00000497815.1:p.Ala283= | |
| ENST00000649315.1:c.59C>T | ||
| ENST00000649419.1:n.56C>T | ||
| ENST00000650310.1:c.849C>T | ENSP00000497395.1:p.Ala283= | |
| ENST00000348624.4:c.849C>T | ENSP00000297562.4:p.Ala283= | |
| ENST00000477680.5:n.607C>T | ||
| ENST00000491375.1:n.704C>T | ||
| ENST00000496303.5:n.913C>T | ||
| NM_014855.2:c.849C>T | NP_055670.1:p.Ala283= | |
| XR_242109.1:n.874C>T | ||
| NM_001364858.1:c.381C>T | NP_001351787.1:p.Ala127= | |
| NM_014855.3:c.849C>T MANE Select | NP_055670.1:p.Ala283= | |
| NR_157345.1:n.942C>T |