Linked Data
ClinVar Variation Id:
217724
dbSNP Id:
rs116647652
ExAC:
8:94798513 C / T
gnomAD v2:
8-94798513-C-T
gnomAD v3:
8-93786285-C-T
gnomAD v4:
8-93786285-C-T
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93786285C>T , CM000670.2:g.93786285C>T | GRCh38 |
| NC_000008.10:g.94798513C>T , CM000670.1:g.94798513C>T | GRCh37 |
| NC_000008.9:g.94867689C>T | NCBI36 |
| NG_009190.1:g.36442C>T , LRG_688:g.36442C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1351C>T | ENSP00000314488.4:p.Arg451Ter | |
| ENST00000409623.8:c.1306C>T | ENSP00000386966.4:p.Arg436Ter | |
| ENST00000452276.6:c.1351C>T | ENSP00000388671.2:p.Arg451Ter | |
| ENST00000453906.6:c.469C>T | ENSP00000403035.2:p.Arg157Ter | |
| ENST00000520680.2:c.1351C>T | ENSP00000428785.2:p.Arg451Ter | |
| ENST00000521517.6:c.1351C>T | ENSP00000430740.2:p.Arg451Ter | |
| ENST00000681998.1:c.1172C>T | ENSP00000506773.1:n.1172C>T | |
| ENST00000682036.1:c.469C>T | ENSP00000508390.1:p.Arg157Ter | |
| ENST00000682577.1:c.1124C>T | ENSP00000506963.1:n.1124C>T | |
| ENST00000682624.1:c.*925C>T | ENSP00000508343.1:n.*925C>T | |
| ENST00000682700.1:c.1351C>T | ENSP00000507627.1:p.Arg451Ter | |
| ENST00000682744.1:n.889C>T | ||
| ENST00000682804.1:n.1174C>T | ||
| ENST00000682837.1:c.840C>T | ENSP00000507920.1:n.840C>T | |
| ENST00000682935.1:n.3401C>T | ||
| ENST00000682984.1:c.1012C>T | ENSP00000507209.1:p.Arg338Ter | |
| ENST00000683078.1:c.1106C>T | ENSP00000506796.1:n.1106C>T | |
| ENST00000683223.1:c.1083C>T | ENSP00000507685.1:n.1083C>T | |
| ENST00000683238.1:n.2575C>T | ||
| ENST00000683249.1:n.2948C>T | ||
| ENST00000683336.1:c.1172C>T | ENSP00000507695.1:n.1172C>T | |
| ENST00000683362.1:c.1012C>T | ENSP00000506985.1:p.Arg338Ter | |
| ENST00000683850.1:n.1274C>T | ||
| ENST00000683919.1:c.1281C>T | ENSP00000507617.1:n.1281C>T | |
| ENST00000683953.1:c.1262C>T | ENSP00000508375.1:n.1262C>T | |
| ENST00000684023.1:c.1328C>T | ENSP00000507461.1:n.1328C>T | |
| ENST00000684064.1:c.1042C>T | ENSP00000508192.1:p.Arg348Ter | |
| ENST00000684089.1:n.2901C>T | ||
| ENST00000684149.1:c.*530C>T | ENSP00000507943.1:n.*530C>T | |
| ENST00000684416.1:n.1310C>T | ||
| ENST00000684540.1:c.1281C>T | ENSP00000507987.1:n.1281C>T | |
| ENST00000453321.8:c.1351C>T MANE Select | ENSP00000389998.3:p.Arg451Ter | |
| ENST00000323130.7:c.1321C>T | ENSP00000314488.3:p.Arg441Ter | |
| ENST00000409623.7:c.1108C>T | ENSP00000386966.3:p.Arg370Ter | |
| ENST00000452276.5:c.1042C>T | ENSP00000388671.1:p.Arg348Ter | |
| ENST00000453321.7:c.1351C>T | ENSP00000389998.3:p.Arg451Ter | |
| ENST00000453906.5:c.469C>T | ENSP00000403035.1:p.Arg157Ter | |
| ENST00000474944.5:n.489C>T | ||
| ENST00000520680.1:c.173C>T | ||
| NM_001142301.1:c.1108C>T , LRG_688t2:c.1108C>T | NP_001135773.1:p.Arg370Ter | |
| NM_153704.5:c.1351C>T , LRG_688t1:c.1351C>T | NP_714915.3:p.Arg451Ter | |
| NR_024522.1:n.1422C>T | ||
| XM_006716686.2:c.1048C>T | XP_006716749.1:p.Arg350Ter | |
| XM_006716687.2:c.751C>T | XP_006716750.1:p.Arg251Ter | |
| XM_011517363.1:c.469C>T | XP_011515665.1:p.Arg157Ter | |
| XR_428387.1:n.1409C>T | ||
| XR_928360.1:n.1409C>T | ||
| XR_928361.1:n.1409C>T | ||
| XR_928362.1:n.1409C>T | ||
| XM_006716686.4:c.1048C>T | XP_006716749.1:p.Arg350Ter | |
| XM_011517363.3:c.469C>T | XP_011515665.1:p.Arg157Ter | |
| XM_024447326.1:c.697C>T | XP_024303094.1:p.Arg233Ter | |
| XR_001745619.2:n.1392C>T | ||
| XR_428387.2:n.1392C>T | ||
| XR_928360.3:n.1392C>T | ||
| XR_928362.3:n.1392C>T | ||
| NM_153704.6:c.1351C>T MANE Select | NP_714915.3:p.Arg451Ter | |
| NR_024522.2:n.1372C>T |