gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00093292 (AFR)
Genomes Max Group AF
0.00084274 (AFR)
Exomes Max Group AF
0.00085143 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129562398C>T , CM000685.2:g.129562398C>T | GRCh38 |
| NC_000023.10:g.128696375C>T , CM000685.1:g.128696375C>T | GRCh37 |
| NC_000023.9:g.128524056C>T | NCBI36 |
| NG_008638.1:g.27124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691455.1:c.*1246C>T | ENSP00000510265.1:n.*1246C>T | |
| ENST00000693473.1:c.1071C>T | ||
| ENST00000371113.9:c.954C>T MANE Select | ENSP00000360154.4:p.Arg318= | |
| ENST00000646010.1:c.1002C>T | ||
| ENST00000646914.1:c.65C>T | ||
| ENST00000647245.1:c.605C>T | ||
| ENST00000357121.5:c.954C>T | ENSP00000349635.5:p.Arg318= | |
| ENST00000371113.8:c.954C>T | ENSP00000360154.4:p.Arg318= | |
| NM_000276.3:c.954C>T | NP_000267.2:p.Arg318= | |
| NM_001587.3:c.954C>T | NP_001578.2:p.Arg318= | |
| XM_005262422.1:c.483C>T | XP_005262479.1:p.Arg161= | |
| XM_011531342.1:c.957C>T | XP_011529644.1:p.Arg319= | |
| XM_011531343.1:c.957C>T | XP_011529645.1:p.Arg319= | |
| XM_011531344.1:c.810C>T | XP_011529646.1:p.Arg270= | |
| XM_011531345.1:c.810C>T | XP_011529647.1:p.Arg270= | |
| XM_011531346.1:c.957C>T | XP_011529648.1:p.Arg319= | |
| NM_001318784.1:c.957C>T | NP_001305713.1:p.Arg319= | |
| XM_005262422.2:c.483C>T | XP_005262479.1:p.Arg161= | |
| XM_011531344.3:c.810C>T | XP_011529646.1:p.Arg270= | |
| XM_011531345.3:c.810C>T | XP_011529647.1:p.Arg270= | |
| XM_017029554.1:c.954C>T | XP_016885043.1:p.Arg318= | |
| NM_000276.4:c.954C>T MANE Select | NP_000267.2:p.Arg318= | |
| NM_001318784.2:c.957C>T | NP_001305713.1:p.Arg319= | |
| NM_001587.4:c.954C>T | NP_001578.2:p.Arg318= |