gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58071241 (AFR)
Genomes Max Group AF
0.58071241 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.156384945C>T , CM000665.2:g.156384945C>T | GRCh38 |
| NC_000003.11:g.156102734C>T , CM000665.1:g.156102734C>T | GRCh37 |
| NC_000003.10:g.157585428C>T | NCBI36 |
| NG_042292.1:g.269398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490337.6:c.276-36671C>T MANE Select | ENSP00000419952.1:n.276-36671C>T | |
| ENST00000302490.12:c.222-36671C>T | ENSP00000305858.8:n.222-36671C>T | |
| ENST00000389634.5:c.222-36671C>T | ENSP00000374285.5:n.222-36671C>T | |
| ENST00000389636.9:c.276-36671C>T | ENSP00000374287.5:n.276-36671C>T | |
| ENST00000471742.5:c.243-36671C>T | ENSP00000418956.1:n.243-36671C>T | |
| ENST00000472028.5:c.30-36671C>T | ENSP00000420755.1:n.30-36671C>T | |
| ENST00000475456.5:c.105-36671C>T | ENSP00000420221.1:n.105-36671C>T | |
| ENST00000477912.5:n.241+2737C>T | ||
| ENST00000478609.5:n.175-36671C>T | ||
| ENST00000489036.5:c.210-67954C>T | ENSP00000418048.1:n.210-67954C>T | |
| ENST00000490337.5:c.276-36671C>T | ENSP00000419952.1:n.276-36671C>T | |
| ENST00000618897.4:c.12-36671C>T | ENSP00000484368.1:n.12-36671C>T | |
| NM_001308217.1:c.276-36671C>T | NP_001295146.1:n.276-36671C>T | |
| NM_001308222.1:c.222-36671C>T | NP_001295151.1:n.222-36671C>T | |
| NM_003471.3:c.243-36671C>T | NP_003462.2:n.243-36671C>T | |
| NM_172159.3:c.222-36671C>T | NP_751891.1:n.222-36671C>T | |
| NM_172160.2:c.276-36671C>T | NP_751892.1:n.276-36671C>T | |
| XM_011513115.1:c.30-36671C>T | XP_011511417.1:n.30-36671C>T | |
| XM_011513115.3:c.30-36671C>T | XP_011511417.1:n.30-36671C>T | |
| XM_017007171.2:c.30-36671C>T | XP_016862660.1:n.30-36671C>T | |
| XM_017007174.2:c.276-36671C>T | XP_016862663.1:n.276-36671C>T | |
| NM_172160.3:c.276-36671C>T MANE Select | NP_751892.1:n.276-36671C>T |