gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004117 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00004022 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4784283C>T , CM000669.2:g.4784283C>T | GRCh38 |
| NC_000007.13:g.4823914C>T , CM000669.1:g.4823914C>T | GRCh37 |
| NC_000007.12:g.4790440C>T | NCBI36 |
| NG_028111.1:g.13653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.460C>T | ||
| ENST00000496303.6:n.530C>T | ||
| ENST00000647628.1:n.193C>T | ||
| ENST00000647984.1:c.*47C>T | ENSP00000497794.1:n.*47C>T | |
| ENST00000648925.1:c.702C>T | ENSP00000496830.1:p.Asp234= | |
| ENST00000649063.2:c.702C>T MANE Select | ENSP00000497815.1:p.Asp234= | |
| ENST00000650310.1:c.702C>T | ENSP00000497395.1:p.Asp234= | |
| ENST00000650451.1:c.*47C>T | ENSP00000496998.1:n.*47C>T | |
| ENST00000348624.4:c.702C>T | ENSP00000297562.4:p.Asp234= | |
| ENST00000477680.5:n.460C>T | ||
| ENST00000491375.1:n.557C>T | ||
| ENST00000496303.5:n.766C>T | ||
| NM_014855.2:c.702C>T | NP_055670.1:p.Asp234= | |
| XR_242109.1:n.727C>T | ||
| NM_001364858.1:c.234C>T | NP_001351787.1:p.Asp78= | |
| NM_014855.3:c.702C>T MANE Select | NP_055670.1:p.Asp234= | |
| NR_157345.1:n.795C>T |