gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001257 (NFE)
Exomes Max Group AF
0.0000123 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129558664T>G , CM000685.2:g.129558664T>G | GRCh38 |
| NC_000023.10:g.128692641T>G , CM000685.1:g.128692641T>G | GRCh37 |
| NC_000023.9:g.128520322T>G | NCBI36 |
| NG_008638.1:g.23390T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689093.1:c.1548T>G | ||
| ENST00000691455.1:c.*763T>G | ENSP00000510265.1:n.*763T>G | |
| ENST00000693473.1:c.588T>G | ||
| ENST00000371113.9:c.471T>G MANE Select | ENSP00000360154.4:p.Ser157= | |
| ENST00000646010.1:c.519T>G | ||
| ENST00000647245.1:c.122T>G | ||
| ENST00000357121.5:c.471T>G | ENSP00000349635.5:p.Ser157= | |
| ENST00000371113.8:c.471T>G | ENSP00000360154.4:p.Ser157= | |
| ENST00000486673.1:n.713T>G | ||
| NM_000276.3:c.471T>G | NP_000267.2:p.Ser157= | |
| NM_001587.3:c.471T>G | NP_001578.2:p.Ser157= | |
| XM_005262422.1:c.-1T>G | XP_005262479.1:n.-1T>G | |
| XM_011531342.1:c.474T>G | XP_011529644.1:p.Ser158= | |
| XM_011531343.1:c.474T>G | XP_011529645.1:p.Ser158= | |
| XM_011531344.1:c.327T>G | XP_011529646.1:p.Ser109= | |
| XM_011531345.1:c.327T>G | XP_011529647.1:p.Ser109= | |
| XM_011531346.1:c.474T>G | XP_011529648.1:p.Ser158= | |
| NM_001318784.1:c.474T>G | NP_001305713.1:p.Ser158= | |
| XM_005262422.2:c.-1T>G | XP_005262479.1:n.-1T>G | |
| XM_011531344.3:c.327T>G | XP_011529646.1:p.Ser109= | |
| XM_011531345.3:c.327T>G | XP_011529647.1:p.Ser109= | |
| XM_017029554.1:c.471T>G | XP_016885043.1:p.Ser157= | |
| NM_000276.4:c.471T>G MANE Select | NP_000267.2:p.Ser157= | |
| NM_001318784.2:c.474T>G | NP_001305713.1:p.Ser158= | |
| NM_001587.4:c.471T>G | NP_001578.2:p.Ser157= |