Linked Data
ClinVar Variation Id:
1376
ClinVar RCV Id:
RCV000001443
RCV000001442
RCV000334857
RCV000468558
RCV000494327
RCV000723362
RCV002298428
RCV003242959
RCV002490291
dbSNP Id:
rs137853108
ExAC:
8:94777845 A / T
gnomAD v2:
8-94777845-A-T
gnomAD v3:
8-93765617-A-T
gnomAD v4:
8-93765617-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93765617A>T , CM000670.2:g.93765617A>T | GRCh38 |
| NC_000008.10:g.94777845A>T , CM000670.1:g.94777845A>T | GRCh37 |
| NC_000008.9:g.94847021A>T | NCBI36 |
| NG_009190.1:g.15774A>T , LRG_688:g.15774A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.622A>T | ENSP00000314488.4:p.Arg208Ter | |
| ENST00000409623.8:c.622A>T | ENSP00000386966.4:p.Arg208Ter | |
| ENST00000452276.6:c.622A>T | ENSP00000388671.2:p.Arg208Ter | |
| ENST00000453906.6:c.406+7041A>T | ENSP00000403035.2:n.406+7041A>T | |
| ENST00000520680.2:c.622A>T | ENSP00000428785.2:p.Arg208Ter | |
| ENST00000521065.2:c.*339A>T | ENSP00000427947.2:n.*339A>T | |
| ENST00000521517.6:c.622A>T | ENSP00000430740.2:p.Arg208Ter | |
| ENST00000681998.1:c.552A>T | ENSP00000506773.1:p.Val184= | |
| ENST00000682036.1:c.406+7041A>T | ENSP00000508390.1:n.406+7041A>T | |
| ENST00000682577.1:c.552A>T | ENSP00000506963.1:p.Val184= | |
| ENST00000682624.1:c.*196A>T | ENSP00000508343.1:n.*196A>T | |
| ENST00000682700.1:c.622A>T | ENSP00000507627.1:p.Arg208Ter | |
| ENST00000682804.1:n.445A>T | ||
| ENST00000682837.1:c.407-6972A>T | ENSP00000507920.1:n.407-6972A>T | |
| ENST00000682935.1:n.2182A>T | ||
| ENST00000682984.1:c.313-6972A>T | ENSP00000507209.1:n.313-6972A>T | |
| ENST00000683078.1:c.407-6972A>T | ENSP00000506796.1:n.407-6972A>T | |
| ENST00000683223.1:c.463A>T | ENSP00000507685.1:n.463A>T | |
| ENST00000683238.1:n.2003A>T | ||
| ENST00000683249.1:n.2203A>T | ||
| ENST00000683336.1:c.552A>T | ENSP00000507695.1:p.Val184= | |
| ENST00000683362.1:c.313-6972A>T | ENSP00000506985.1:n.313-6972A>T | |
| ENST00000683850.1:n.545A>T | ||
| ENST00000683919.1:c.552A>T | ENSP00000507617.1:p.Val184= | |
| ENST00000683953.1:c.533A>T | ENSP00000508375.1:n.533A>T | |
| ENST00000684023.1:c.756A>T | ENSP00000507461.1:n.756A>T | |
| ENST00000684064.1:c.313A>T | ENSP00000508192.1:p.Arg105Ter | |
| ENST00000684089.1:n.2172A>T | ||
| ENST00000684149.1:c.552A>T | ENSP00000507943.1:p.Val184= | |
| ENST00000684416.1:n.581A>T | ||
| ENST00000684540.1:c.552A>T | ENSP00000507987.1:p.Val184= | |
| ENST00000453321.8:c.622A>T MANE Select | ENSP00000389998.3:p.Arg208Ter | |
| ENST00000323130.7:c.592A>T | ENSP00000314488.3:p.Arg198Ter | |
| ENST00000409623.7:c.379A>T | ENSP00000386966.3:p.Arg127Ter | |
| ENST00000452276.5:c.313A>T | ENSP00000388671.1:p.Arg105Ter | |
| ENST00000453321.7:c.622A>T | ENSP00000389998.3:p.Arg208Ter | |
| ENST00000453906.5:c.406+7041A>T | ENSP00000403035.1:n.406+7041A>T | |
| ENST00000474944.5:n.426+7041A>T | ||
| ENST00000496213.5:n.87A>T | ||
| NM_001142301.1:c.379A>T , LRG_688t2:c.379A>T | NP_001135773.1:p.Arg127Ter | |
| NM_153704.5:c.622A>T , LRG_688t1:c.622A>T | NP_714915.3:p.Arg208Ter | |
| NR_024522.1:n.693A>T | ||
| XM_006716686.2:c.319A>T | XP_006716749.1:p.Arg107Ter | |
| XM_011517363.1:c.406+7041A>T | XP_011515665.1:n.406+7041A>T | |
| XR_428387.1:n.680A>T | ||
| XR_928360.1:n.680A>T | ||
| XR_928361.1:n.680A>T | ||
| XR_928362.1:n.680A>T | ||
| XM_006716686.4:c.319A>T | XP_006716749.1:p.Arg107Ter | |
| XM_011517363.3:c.406+7041A>T | XP_011515665.1:n.406+7041A>T | |
| XM_024447326.1:c.-3-6972A>T | XP_024303094.1:n.-3-6972A>T | |
| XR_001745619.2:n.663A>T | ||
| XR_428387.2:n.663A>T | ||
| XR_928360.3:n.663A>T | ||
| XR_928362.3:n.663A>T | ||
| NM_153704.6:c.622A>T MANE Select | NP_714915.3:p.Arg208Ter | |
| NR_024522.2:n.643A>T |