Linked Data
ClinVar Variation Id:
217725
ClinVar RCV Id:
RCV000201784
RCV000414925
RCV000623940
RCV000627003
RCV000763609
RCV001853244
RCV003997037
dbSNP Id:
rs752362727
ExAC:
8:94798483 C / T
gnomAD v2:
8-94798483-C-T
gnomAD v4:
8-93786255-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93786255C>T , CM000670.2:g.93786255C>T | GRCh38 |
| NC_000008.10:g.94798483C>T , CM000670.1:g.94798483C>T | GRCh37 |
| NC_000008.9:g.94867659C>T | NCBI36 |
| NG_009190.1:g.36412C>T , LRG_688:g.36412C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1321C>T | ENSP00000314488.4:p.Arg441Cys | |
| ENST00000409623.8:c.1289-13C>T | ENSP00000386966.4:n.1289-13C>T | |
| ENST00000452276.6:c.1321C>T | ENSP00000388671.2:p.Arg441Cys | |
| ENST00000453906.6:c.439C>T | ENSP00000403035.2:p.Arg147Cys | |
| ENST00000520680.2:c.1321C>T | ENSP00000428785.2:p.Arg441Cys | |
| ENST00000521517.6:c.1321C>T | ENSP00000430740.2:p.Arg441Cys | |
| ENST00000681998.1:c.1142C>T | ENSP00000506773.1:n.1142C>T | |
| ENST00000682036.1:c.439C>T | ENSP00000508390.1:p.Arg147Cys | |
| ENST00000682577.1:c.1094C>T | ENSP00000506963.1:n.1094C>T | |
| ENST00000682624.1:c.*895C>T | ENSP00000508343.1:n.*895C>T | |
| ENST00000682700.1:c.1321C>T | ENSP00000507627.1:p.Arg441Cys | |
| ENST00000682744.1:n.859C>T | ||
| ENST00000682804.1:n.1144C>T | ||
| ENST00000682837.1:c.810C>T | ENSP00000507920.1:n.810C>T | |
| ENST00000682935.1:n.3371C>T | ||
| ENST00000682984.1:c.982C>T | ENSP00000507209.1:p.Arg328Cys | |
| ENST00000683078.1:c.1076C>T | ENSP00000506796.1:n.1076C>T | |
| ENST00000683223.1:c.1053C>T | ENSP00000507685.1:n.1053C>T | |
| ENST00000683238.1:n.2545C>T | ||
| ENST00000683249.1:n.2918C>T | ||
| ENST00000683336.1:c.1142C>T | ENSP00000507695.1:n.1142C>T | |
| ENST00000683362.1:c.982C>T | ENSP00000506985.1:p.Arg328Cys | |
| ENST00000683850.1:n.1244C>T | ||
| ENST00000683919.1:c.1251C>T | ENSP00000507617.1:n.1251C>T | |
| ENST00000683953.1:c.1232C>T | ENSP00000508375.1:n.1232C>T | |
| ENST00000684023.1:c.1298C>T | ENSP00000507461.1:n.1298C>T | |
| ENST00000684064.1:c.1012C>T | ENSP00000508192.1:p.Arg338Cys | |
| ENST00000684089.1:n.2871C>T | ||
| ENST00000684149.1:c.*500C>T | ENSP00000507943.1:n.*500C>T | |
| ENST00000684416.1:n.1280C>T | ||
| ENST00000684540.1:c.1251C>T | ENSP00000507987.1:n.1251C>T | |
| ENST00000453321.8:c.1321C>T MANE Select | ENSP00000389998.3:p.Arg441Cys | |
| ENST00000323130.7:c.1291C>T | ENSP00000314488.3:p.Arg431Cys | |
| ENST00000409623.7:c.1078C>T | ENSP00000386966.3:p.Arg360Cys | |
| ENST00000452276.5:c.1012C>T | ENSP00000388671.1:p.Arg338Cys | |
| ENST00000453321.7:c.1321C>T | ENSP00000389998.3:p.Arg441Cys | |
| ENST00000453906.5:c.439C>T | ENSP00000403035.1:p.Arg147Cys | |
| ENST00000474944.5:n.459C>T | ||
| ENST00000520680.1:c.143C>T | ||
| NM_001142301.1:c.1078C>T , LRG_688t2:c.1078C>T | NP_001135773.1:p.Arg360Cys | |
| NM_153704.5:c.1321C>T , LRG_688t1:c.1321C>T | NP_714915.3:p.Arg441Cys | |
| NR_024522.1:n.1392C>T | ||
| XM_006716686.2:c.1018C>T | XP_006716749.1:p.Arg340Cys | |
| XM_006716687.2:c.721C>T | XP_006716750.1:p.Arg241Cys | |
| XM_011517363.1:c.439C>T | XP_011515665.1:p.Arg147Cys | |
| XR_428387.1:n.1379C>T | ||
| XR_928360.1:n.1379C>T | ||
| XR_928361.1:n.1379C>T | ||
| XR_928362.1:n.1379C>T | ||
| XM_006716686.4:c.1018C>T | XP_006716749.1:p.Arg340Cys | |
| XM_011517363.3:c.439C>T | XP_011515665.1:p.Arg147Cys | |
| XM_024447326.1:c.667C>T | XP_024303094.1:p.Arg223Cys | |
| XR_001745619.2:n.1362C>T | ||
| XR_428387.2:n.1362C>T | ||
| XR_928360.3:n.1362C>T | ||
| XR_928362.3:n.1362C>T | ||
| NM_153704.6:c.1321C>T MANE Select | NP_714915.3:p.Arg441Cys | |
| NR_024522.2:n.1342C>T |