gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00182313 (MID)
Genomes Max Group AF
0.00035359 (AMR)
Exomes Max Group AF
0.00159271 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4788172C>G , CM000669.2:g.4788172C>G | GRCh38 |
| NC_000007.13:g.4827803C>G , CM000669.1:g.4827803C>G | GRCh37 |
| NC_000007.12:g.4794329C>G | NCBI36 |
| NG_028111.1:g.17542C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1231C>G | ||
| ENST00000496303.6:n.1301C>G | ||
| ENST00000647984.1:c.*818C>G | ENSP00000497794.1:n.*818C>G | |
| ENST00000648360.1:c.83C>G | ||
| ENST00000648925.1:c.1473C>G | ENSP00000496830.1:p.Ser491= | |
| ENST00000649063.2:c.1473C>G MANE Select | ENSP00000497815.1:p.Ser491= | |
| ENST00000649315.1:c.970C>G | ||
| ENST00000649419.1:n.1352C>G | ||
| ENST00000649736.1:n.336C>G | ||
| ENST00000650310.1:c.*44C>G | ENSP00000497395.1:n.*44C>G | |
| ENST00000650581.1:c.275C>G | ||
| ENST00000348624.4:c.1473C>G | ENSP00000297562.4:p.Ser491= | |
| ENST00000477454.1:n.254C>G | ||
| ENST00000477680.5:n.1231C>G | ||
| ENST00000496303.5:n.1537C>G | ||
| NM_014855.2:c.1473C>G | NP_055670.1:p.Ser491= | |
| XR_242109.1:n.1536C>G | ||
| NM_001364858.1:c.1005C>G | NP_001351787.1:p.Ser335= | |
| NM_014855.3:c.1473C>G MANE Select | NP_055670.1:p.Ser491= | |
| NR_157345.1:n.1604C>G |