Linked Data
ClinVar Variation Id:
287429
dbSNP Id:
rs747396791
ExAC:
X:128692641 T / A
gnomAD v2:
X-128692641-T-A
gnomAD v3:
X-129558664-T-A
gnomAD v4:
X-129558664-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129558664T>A , CM000685.2:g.129558664T>A | GRCh38 |
| NC_000023.10:g.128692641T>A , CM000685.1:g.128692641T>A | GRCh37 |
| NC_000023.9:g.128520322T>A | NCBI36 |
| NG_008638.1:g.23390T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689093.1:c.1548T>A | ||
| ENST00000691455.1:c.*763T>A | ENSP00000510265.1:n.*763T>A | |
| ENST00000693473.1:c.588T>A | ||
| ENST00000371113.9:c.471T>A MANE Select | ENSP00000360154.4:p.Ser157= | |
| ENST00000646010.1:c.519T>A | ||
| ENST00000647245.1:c.122T>A | ||
| ENST00000357121.5:c.471T>A | ENSP00000349635.5:p.Ser157= | |
| ENST00000371113.8:c.471T>A | ENSP00000360154.4:p.Ser157= | |
| ENST00000486673.1:n.713T>A | ||
| NM_000276.3:c.471T>A | NP_000267.2:p.Ser157= | |
| NM_001587.3:c.471T>A | NP_001578.2:p.Ser157= | |
| XM_005262422.1:c.-1T>A | XP_005262479.1:n.-1T>A | |
| XM_011531342.1:c.474T>A | XP_011529644.1:p.Ser158= | |
| XM_011531343.1:c.474T>A | XP_011529645.1:p.Ser158= | |
| XM_011531344.1:c.327T>A | XP_011529646.1:p.Ser109= | |
| XM_011531345.1:c.327T>A | XP_011529647.1:p.Ser109= | |
| XM_011531346.1:c.474T>A | XP_011529648.1:p.Ser158= | |
| NM_001318784.1:c.474T>A | NP_001305713.1:p.Ser158= | |
| XM_005262422.2:c.-1T>A | XP_005262479.1:n.-1T>A | |
| XM_011531344.3:c.327T>A | XP_011529646.1:p.Ser109= | |
| XM_011531345.3:c.327T>A | XP_011529647.1:p.Ser109= | |
| XM_017029554.1:c.471T>A | XP_016885043.1:p.Ser157= | |
| NM_000276.4:c.471T>A MANE Select | NP_000267.2:p.Ser157= | |
| NM_001318784.2:c.474T>A | NP_001305713.1:p.Ser158= | |
| NM_001587.4:c.471T>A | NP_001578.2:p.Ser157= |