Linked Data
ClinVar Variation Id:
56782
dbSNP Id:
rs386834201
ExAC:
8:94770785 T / A
gnomAD v2:
8-94770785-T-A
gnomAD v3:
8-93758557-T-A
gnomAD v4:
8-93758557-T-A
PubMed:
PMID:20232449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93758557T>A , CM000670.2:g.93758557T>A | GRCh38 |
| NC_000008.10:g.94770785T>A , CM000670.1:g.94770785T>A | GRCh37 |
| NC_000008.9:g.94839961T>A | NCBI36 |
| NG_009190.1:g.8714T>A , LRG_688:g.8714T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.387T>A | ENSP00000314488.4:p.Cys129Ter | |
| ENST00000409623.8:c.387T>A | ENSP00000386966.4:p.Cys129Ter | |
| ENST00000452276.6:c.387T>A | ENSP00000388671.2:p.Cys129Ter | |
| ENST00000453906.6:c.387T>A | ENSP00000403035.2:p.Cys129Ter | |
| ENST00000520680.2:c.387T>A | ENSP00000428785.2:p.Cys129Ter | |
| ENST00000521065.2:c.387T>A | ENSP00000427947.2:p.Cys129Ter | |
| ENST00000521517.6:c.387T>A | ENSP00000430740.2:p.Cys129Ter | |
| ENST00000681998.1:c.387T>A | ENSP00000506773.1:p.Cys129Ter | |
| ENST00000682036.1:c.387T>A | ENSP00000508390.1:p.Cys129Ter | |
| ENST00000682577.1:c.387T>A | ENSP00000506963.1:p.Cys129Ter | |
| ENST00000682624.1:c.*31T>A | ENSP00000508343.1:n.*31T>A | |
| ENST00000682700.1:c.387T>A | ENSP00000507627.1:p.Cys129Ter | |
| ENST00000682804.1:n.280T>A | ||
| ENST00000682837.1:c.387T>A | ENSP00000507920.1:p.Cys129Ter | |
| ENST00000682935.1:n.387T>A | ||
| ENST00000682984.1:c.312+2691T>A | ENSP00000507209.1:n.312+2691T>A | |
| ENST00000683078.1:c.387T>A | ENSP00000506796.1:p.Cys129Ter | |
| ENST00000683223.1:c.298T>A | ENSP00000507685.1:n.298T>A | |
| ENST00000683238.1:n.208T>A | ||
| ENST00000683249.1:n.408T>A | ||
| ENST00000683336.1:c.387T>A | ENSP00000507695.1:p.Cys129Ter | |
| ENST00000683362.1:c.312+2691T>A | ENSP00000506985.1:n.312+2691T>A | |
| ENST00000683850.1:n.310T>A | ||
| ENST00000683919.1:c.387T>A | ENSP00000507617.1:p.Cys129Ter | |
| ENST00000683953.1:c.298T>A | ENSP00000508375.1:n.298T>A | |
| ENST00000684023.1:c.387T>A | ENSP00000507461.1:p.Cys129Ter | |
| ENST00000684064.1:c.78T>A | ENSP00000508192.1:p.Cys26Ter | |
| ENST00000684089.1:n.377T>A | ||
| ENST00000684149.1:c.387T>A | ENSP00000507943.1:p.Cys129Ter | |
| ENST00000684416.1:n.212T>A | ||
| ENST00000684540.1:c.387T>A | ENSP00000507987.1:p.Cys129Ter | |
| ENST00000684733.1:n.322T>A | ||
| ENST00000453321.8:c.387T>A MANE Select | ENSP00000389998.3:p.Cys129Ter | |
| ENST00000323130.7:c.357T>A | ENSP00000314488.3:p.Cys119Ter | |
| ENST00000409623.7:c.10T>A | ENSP00000386966.3:p.Ser4Thr | |
| ENST00000452276.5:c.78T>A | ENSP00000388671.1:p.Cys26Ter | |
| ENST00000453321.7:c.387T>A | ENSP00000389998.3:p.Cys129Ter | |
| ENST00000453906.5:c.387T>A | ENSP00000403035.1:p.Cys129Ter | |
| ENST00000455946.5:c.387T>A | ENSP00000416339.1:p.Cys129Ter | |
| ENST00000474944.5:n.407T>A | ||
| ENST00000475305.1:n.396T>A | ||
| ENST00000498673.5:c.-94T>A | ENSP00000430232.1:n.-94T>A | |
| ENST00000518319.5:c.-133T>A | ENSP00000430289.1:n.-133T>A | |
| ENST00000521065.1:c.293T>A | ||
| ENST00000521222.5:c.*23T>A | ENSP00000429925.1:n.*23T>A | |
| ENST00000521517.5:c.379T>A | ||
| NM_001142301.1:c.10T>A , LRG_688t2:c.10T>A | NP_001135773.1:p.Ser4Thr | |
| NM_153704.5:c.387T>A , LRG_688t1:c.387T>A | NP_714915.3:p.Cys129Ter | |
| NR_024522.1:n.458T>A | ||
| XM_006716686.2:c.84T>A | XP_006716749.1:p.Cys28Ter | |
| XM_011517363.1:c.387T>A | XP_011515665.1:p.Cys129Ter | |
| XR_428387.1:n.445T>A | ||
| XR_928360.1:n.445T>A | ||
| XR_928361.1:n.445T>A | ||
| XR_928362.1:n.445T>A | ||
| XM_006716686.4:c.84T>A | XP_006716749.1:p.Cys28Ter | |
| XM_011517363.3:c.387T>A | XP_011515665.1:p.Cys129Ter | |
| XM_024447326.1:c.-23T>A | XP_024303094.1:n.-23T>A | |
| XR_001745619.2:n.428T>A | ||
| XR_428387.2:n.428T>A | ||
| XR_928360.3:n.428T>A | ||
| XR_928362.3:n.428T>A | ||
| NM_153704.6:c.387T>A MANE Select | NP_714915.3:p.Cys129Ter | |
| NR_024522.2:n.408T>A |