Linked Data
ClinVar Variation Id:
1377
ClinVar RCV Id:
RCV000001444
RCV000234830
RCV000242814
RCV000725926
RCV001085857
RCV001158404
RCV001158405
RCV001158406
RCV001198570
RCV001333012
dbSNP Id:
rs111619594
ExAC:
8:94793190 A / T
gnomAD v2:
8-94793190-A-T
gnomAD v3:
8-93780962-A-T
gnomAD v4:
8-93780962-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780962A>T , CM000670.2:g.93780962A>T | GRCh38 |
| NC_000008.10:g.94793190A>T , CM000670.1:g.94793190A>T | GRCh37 |
| NC_000008.9:g.94862366A>T | NCBI36 |
| NG_009190.1:g.31119A>T , LRG_688:g.31119A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323130.8:c.958A>T | ENSP00000314488.4:p.Ser320Cys | |
| ENST00000409623.8:c.958A>T | ENSP00000386966.4:p.Ser320Cys | |
| ENST00000452276.6:c.958A>T | ENSP00000388671.2:p.Ser320Cys | |
| ENST00000453906.6:c.407-5261A>T | ENSP00000403035.2:n.407-5261A>T | |
| ENST00000520680.2:c.958A>T | ENSP00000428785.2:p.Ser320Cys | |
| ENST00000521065.2:c.*675A>T | ENSP00000427947.2:n.*675A>T | |
| ENST00000521517.6:c.958A>T | ENSP00000430740.2:p.Ser320Cys | |
| ENST00000681998.1:c.799+215A>T | ENSP00000506773.1:n.799+215A>T | |
| ENST00000682036.1:c.407-5261A>T | ENSP00000508390.1:n.407-5261A>T | |
| ENST00000682577.1:c.888A>T | ENSP00000506963.1:n.888A>T | |
| ENST00000682624.1:c.*532A>T | ENSP00000508343.1:n.*532A>T | |
| ENST00000682700.1:c.958A>T | ENSP00000507627.1:p.Ser320Cys | |
| ENST00000682744.1:n.496A>T | ||
| ENST00000682804.1:n.781A>T | ||
| ENST00000682837.1:c.624+215A>T | ENSP00000507920.1:n.624+215A>T | |
| ENST00000682935.1:n.2518A>T | ||
| ENST00000682984.1:c.619A>T | ENSP00000507209.1:p.Ser207Cys | |
| ENST00000683078.1:c.713A>T | ENSP00000506796.1:n.713A>T | |
| ENST00000683223.1:c.710+215A>T | ENSP00000507685.1:n.710+215A>T | |
| ENST00000683238.1:n.2339A>T | ||
| ENST00000683249.1:n.2555A>T | ||
| ENST00000683336.1:c.799+215A>T | ENSP00000507695.1:n.799+215A>T | |
| ENST00000683362.1:c.619A>T | ENSP00000506985.1:p.Ser207Cys | |
| ENST00000683850.1:n.881A>T | ||
| ENST00000683919.1:c.888A>T | ENSP00000507617.1:n.888A>T | |
| ENST00000683953.1:c.869A>T | ENSP00000508375.1:n.869A>T | |
| ENST00000684023.1:c.1092A>T | ENSP00000507461.1:n.1092A>T | |
| ENST00000684064.1:c.649A>T | ENSP00000508192.1:p.Ser217Cys | |
| ENST00000684089.1:n.2508A>T | ||
| ENST00000684149.1:c.*294A>T | ENSP00000507943.1:n.*294A>T | |
| ENST00000684416.1:n.917A>T | ||
| ENST00000684540.1:c.888A>T | ENSP00000507987.1:n.888A>T | |
| ENST00000453321.8:c.958A>T MANE Select | ENSP00000389998.3:p.Ser320Cys | |
| ENST00000323130.7:c.928A>T | ENSP00000314488.3:p.Ser310Cys | |
| ENST00000409623.7:c.715A>T | ENSP00000386966.3:p.Ser239Cys | |
| ENST00000425545.2:n.405A>T | ||
| ENST00000452276.5:c.649A>T | ENSP00000388671.1:p.Ser217Cys | |
| ENST00000453321.7:c.958A>T | ENSP00000389998.3:p.Ser320Cys | |
| ENST00000453906.5:c.407-5261A>T | ENSP00000403035.1:n.407-5261A>T | |
| ENST00000474944.5:n.427-5261A>T | ||
| ENST00000496213.5:n.423A>T | ||
| NM_001142301.1:c.715A>T , LRG_688t2:c.715A>T | NP_001135773.1:p.Ser239Cys | |
| NM_153704.5:c.958A>T , LRG_688t1:c.958A>T | NP_714915.3:p.Ser320Cys | |
| NR_024522.1:n.1029A>T | ||
| XM_006716686.2:c.655A>T | XP_006716749.1:p.Ser219Cys | |
| XM_006716687.2:c.358A>T | XP_006716750.1:p.Ser120Cys | |
| XM_011517363.1:c.407-5261A>T | XP_011515665.1:n.407-5261A>T | |
| XR_428387.1:n.1016A>T | ||
| XR_928360.1:n.1016A>T | ||
| XR_928361.1:n.1016A>T | ||
| XR_928362.1:n.1016A>T | ||
| XM_006716686.4:c.655A>T | XP_006716749.1:p.Ser219Cys | |
| XM_011517363.3:c.407-5261A>T | XP_011515665.1:n.407-5261A>T | |
| XM_024447326.1:c.304A>T | XP_024303094.1:p.Ser102Cys | |
| XR_001745619.2:n.999A>T | ||
| XR_428387.2:n.999A>T | ||
| XR_928360.3:n.999A>T | ||
| XR_928362.3:n.999A>T | ||
| NM_153704.6:c.958A>T MANE Select | NP_714915.3:p.Ser320Cys | |
| NR_024522.2:n.979A>T |