gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0063792 (AFR)
Genomes Max Group AF
0.00649774 (AFR)
Exomes Max Group AF
0.00577504 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4781759C>T , CM000669.2:g.4781759C>T | GRCh38 |
| NC_000007.13:g.4821390C>T , CM000669.1:g.4821390C>T | GRCh37 |
| NC_000007.12:g.4787916C>T | NCBI36 |
| NG_028111.1:g.11129C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.125-1557C>T | ||
| ENST00000496303.6:n.147C>T | ||
| ENST00000647984.1:c.179+447C>T | ENSP00000497794.1:n.179+447C>T | |
| ENST00000648925.1:c.366+5C>T | ENSP00000496830.1:n.366+5C>T | |
| ENST00000649063.2:c.366+5C>T MANE Select | ENSP00000497815.1:n.366+5C>T | |
| ENST00000650310.1:c.366+5C>T | ENSP00000497395.1:n.366+5C>T | |
| ENST00000650451.1:c.179+447C>T | ENSP00000496998.1:n.179+447C>T | |
| ENST00000348624.4:c.366+5C>T | ENSP00000297562.4:n.366+5C>T | |
| ENST00000477680.5:n.125-1557C>T | ||
| ENST00000496303.5:n.430+5C>T | ||
| NM_014855.2:c.366+5C>T | NP_055670.1:n.366+5C>T | |
| XR_242109.1:n.391+5C>T | ||
| NM_001364858.1:c.-103+447C>T | NP_001351787.1:n.-103+447C>T | |
| NM_014855.3:c.366+5C>T MANE Select | NP_055670.1:n.366+5C>T | |
| NR_157345.1:n.459+5C>T |