gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00208686 (EAS)
Genomes Max Group AF
0.00240447 (EAS)
Exomes Max Group AF
0.00190447 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4787663C>T , CM000669.2:g.4787663C>T | GRCh38 |
| NC_000007.13:g.4827294C>T , CM000669.1:g.4827294C>T | GRCh37 |
| NC_000007.12:g.4793820C>T | NCBI36 |
| NG_028111.1:g.17033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1099C>T | ||
| ENST00000496303.6:n.1169C>T | ||
| ENST00000647984.1:c.*686C>T | ENSP00000497794.1:n.*686C>T | |
| ENST00000648765.1:n.664C>T | ||
| ENST00000648925.1:c.1341C>T | ENSP00000496830.1:p.Thr447= | |
| ENST00000649063.2:c.1341C>T MANE Select | ENSP00000497815.1:p.Thr447= | |
| ENST00000649315.1:c.838C>T | ||
| ENST00000649419.1:n.1220C>T | ||
| ENST00000650310.1:c.1379C>T | ENSP00000497395.1:p.Pro460Leu | |
| ENST00000650581.1:c.143C>T | ||
| ENST00000348624.4:c.1341C>T | ENSP00000297562.4:p.Thr447= | |
| ENST00000477454.1:n.122C>T | ||
| ENST00000477680.5:n.1099C>T | ||
| ENST00000496303.5:n.1405C>T | ||
| NM_014855.2:c.1341C>T | NP_055670.1:p.Thr447= | |
| XR_242109.1:n.1404C>T | ||
| NM_001364858.1:c.873C>T | NP_001351787.1:p.Thr291= | |
| NM_014855.3:c.1341C>T MANE Select | NP_055670.1:p.Thr447= | |
| NR_157345.1:n.1472C>T |