gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0076734 (AFR)
Genomes Max Group AF
0.00716548 (AFR)
Exomes Max Group AF
0.00783255 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4787637C>T , CM000669.2:g.4787637C>T | GRCh38 |
| NC_000007.13:g.4827268C>T , CM000669.1:g.4827268C>T | GRCh37 |
| NC_000007.12:g.4793794C>T | NCBI36 |
| NG_028111.1:g.17007C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1073C>T | ||
| ENST00000496303.6:n.1143C>T | ||
| ENST00000647984.1:c.*660C>T | ENSP00000497794.1:n.*660C>T | |
| ENST00000648765.1:n.638C>T | ||
| ENST00000648925.1:c.1315C>T | ENSP00000496830.1:p.Leu439= | |
| ENST00000649063.2:c.1315C>T MANE Select | ENSP00000497815.1:p.Leu439= | |
| ENST00000649315.1:c.812C>T | ||
| ENST00000649419.1:n.1194C>T | ||
| ENST00000650310.1:c.1353C>T | ENSP00000497395.1:p.Ser451= | |
| ENST00000650581.1:c.117C>T | ||
| ENST00000348624.4:c.1315C>T | ENSP00000297562.4:p.Leu439= | |
| ENST00000477454.1:n.96C>T | ||
| ENST00000477680.5:n.1073C>T | ||
| ENST00000496303.5:n.1379C>T | ||
| NM_014855.2:c.1315C>T | NP_055670.1:p.Leu439= | |
| XR_242109.1:n.1378C>T | ||
| NM_001364858.1:c.847C>T | NP_001351787.1:p.Leu283= | |
| NM_014855.3:c.1315C>T MANE Select | NP_055670.1:p.Leu439= | |
| NR_157345.1:n.1446C>T |