gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68788029 (NFE)
Genomes Max Group AF
0.68788029 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.66226202C>T , CM000663.2:g.66226202C>T | GRCh38 |
| NC_000001.10:g.66691885C>T , CM000663.1:g.66691885C>T | GRCh37 |
| NC_000001.9:g.66464473C>T | NCBI36 |
| NG_029038.1:g.438693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341517.9:c.282-21258C>T MANE Select | ENSP00000342637.4:n.282-21258C>T | |
| ENST00000329654.8:c.282-21258C>T | ENSP00000332116.4:n.282-21258C>T | |
| ENST00000341517.8:c.282-21258C>T | ENSP00000342637.4:n.282-21258C>T | |
| ENST00000412480.6:c.6-21258C>T | ENSP00000397548.2:n.6-21258C>T | |
| ENST00000423207.6:c.237-21258C>T | ENSP00000392947.2:n.237-21258C>T | |
| ENST00000526666.1:n.474-21258C>T | ||
| ENST00000532040.1:n.473-21258C>T | ||
| NM_001037340.2:c.237-21258C>T | NP_001032417.1:n.237-21258C>T | |
| NM_001037341.1:c.282-21258C>T | NP_001032418.1:n.282-21258C>T | |
| NM_001297440.1:c.6-21258C>T | NP_001284369.1:n.6-21258C>T | |
| NM_001297441.1:c.57-21258C>T | NP_001284370.1:n.57-21258C>T | |
| NM_002600.3:c.282-21258C>T | NP_002591.2:n.282-21258C>T | |
| XM_011541565.1:c.18-21258C>T | XP_011539867.1:n.18-21258C>T | |
| XM_011541566.1:c.-287-21258C>T | XP_011539868.1:n.-287-21258C>T | |
| NM_002600.4:c.282-21258C>T MANE Select | NP_002591.2:n.282-21258C>T | |
| NM_001037340.3:c.237-21258C>T | NP_001032417.1:n.237-21258C>T | |
| NM_001037341.2:c.282-21258C>T | NP_001032418.1:n.282-21258C>T | |
| NM_001297440.2:c.6-21258C>T | NP_001284369.1:n.6-21258C>T |