gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00715322 (SAS)
Genomes Max Group AF
0.00483079 (SAS)
Exomes Max Group AF
0.00719532 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4784361C>A , CM000669.2:g.4784361C>A | GRCh38 |
| NC_000007.13:g.4823992C>A , CM000669.1:g.4823992C>A | GRCh37 |
| NC_000007.12:g.4790518C>A | NCBI36 |
| NG_028111.1:g.13731C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.538C>A | ||
| ENST00000496303.6:n.608C>A | ||
| ENST00000647628.1:n.271C>A | ||
| ENST00000647984.1:c.*125C>A | ENSP00000497794.1:n.*125C>A | |
| ENST00000648925.1:c.780C>A | ENSP00000496830.1:p.Thr260= | |
| ENST00000649063.2:c.780C>A MANE Select | ENSP00000497815.1:p.Thr260= | |
| ENST00000650310.1:c.780C>A | ENSP00000497395.1:p.Thr260= | |
| ENST00000650451.1:c.*125C>A | ENSP00000496998.1:n.*125C>A | |
| ENST00000348624.4:c.780C>A | ENSP00000297562.4:p.Thr260= | |
| ENST00000477680.5:n.538C>A | ||
| ENST00000491375.1:n.635C>A | ||
| ENST00000496303.5:n.844C>A | ||
| NM_014855.2:c.780C>A | NP_055670.1:p.Thr260= | |
| XR_242109.1:n.805C>A | ||
| NM_001364858.1:c.312C>A | NP_001351787.1:p.Thr104= | |
| NM_014855.3:c.780C>A MANE Select | NP_055670.1:p.Thr260= | |
| NR_157345.1:n.873C>A |