Linked Data
ClinVar Variation Id:
530903
dbSNP Id:
rs747025617
ExAC:
8:94805495 C / T
gnomAD v2:
8-94805495-C-T
gnomAD v3:
8-93793267-C-T
gnomAD v4:
8-93793267-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93793267C>T , CM000670.2:g.93793267C>T | GRCh38 |
| NC_000008.10:g.94805495C>T , CM000670.1:g.94805495C>T | GRCh37 |
| NC_000008.9:g.94874671C>T | NCBI36 |
| NG_009190.1:g.43424C>T , LRG_688:g.43424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1645C>T | ENSP00000314488.4:p.Arg549Cys | |
| ENST00000409623.8:c.1600C>T | ENSP00000386966.4:p.Arg534Cys | |
| ENST00000452276.6:c.1645C>T | ENSP00000388671.2:p.Arg549Cys | |
| ENST00000453906.6:c.763C>T | ENSP00000403035.2:p.Arg255Cys | |
| ENST00000520680.2:c.1768C>T | ENSP00000428785.2:p.Arg590Cys | |
| ENST00000521517.6:c.1645C>T | ENSP00000430740.2:p.Arg549Cys | |
| ENST00000681998.1:c.1466C>T | ENSP00000506773.1:n.1466C>T | |
| ENST00000682036.1:c.886C>T | ENSP00000508390.1:p.Arg296Cys | |
| ENST00000682577.1:c.1418C>T | ENSP00000506963.1:n.1418C>T | |
| ENST00000682624.1:c.*1219C>T | ENSP00000508343.1:n.*1219C>T | |
| ENST00000682700.1:c.1645C>T | ENSP00000507627.1:p.Arg549Cys | |
| ENST00000682744.1:n.1183C>T | ||
| ENST00000682804.1:n.1468C>T | ||
| ENST00000682837.1:c.1134C>T | ENSP00000507920.1:n.1134C>T | |
| ENST00000682935.1:n.3695C>T | ||
| ENST00000682984.1:c.1306C>T | ENSP00000507209.1:p.Arg436Cys | |
| ENST00000683078.1:c.1400C>T | ENSP00000506796.1:n.1400C>T | |
| ENST00000683223.1:c.1377C>T | ENSP00000507685.1:n.1377C>T | |
| ENST00000683238.1:n.2869C>T | ||
| ENST00000683249.1:n.3242C>T | ||
| ENST00000683336.1:c.1466C>T | ENSP00000507695.1:n.1466C>T | |
| ENST00000683362.1:c.1306C>T | ENSP00000506985.1:p.Arg436Cys | |
| ENST00000683850.1:n.1568C>T | ||
| ENST00000683919.1:c.1575C>T | ENSP00000507617.1:n.1575C>T | |
| ENST00000683953.1:c.1556C>T | ENSP00000508375.1:n.1556C>T | |
| ENST00000684023.1:c.1622C>T | ENSP00000507461.1:n.1622C>T | |
| ENST00000684064.1:c.1336C>T | ENSP00000508192.1:p.Arg446Cys | |
| ENST00000684089.1:n.3195C>T | ||
| ENST00000684149.1:c.*824C>T | ENSP00000507943.1:n.*824C>T | |
| ENST00000684416.1:n.1604C>T | ||
| ENST00000684540.1:c.1575C>T | ENSP00000507987.1:n.1575C>T | |
| ENST00000453321.8:c.1645C>T MANE Select | ENSP00000389998.3:p.Arg549Cys | |
| ENST00000323130.7:c.1615C>T | ENSP00000314488.3:p.Arg539Cys | |
| ENST00000409623.7:c.1402C>T | ENSP00000386966.3:p.Arg468Cys | |
| ENST00000453321.7:c.1645C>T | ENSP00000389998.3:p.Arg549Cys | |
| ENST00000474944.5:n.783C>T | ||
| ENST00000520680.1:c.590C>T | ||
| ENST00000523230.5:n.180C>T | ||
| NM_001142301.1:c.1402C>T , LRG_688t2:c.1402C>T | NP_001135773.1:p.Arg468Cys | |
| NM_153704.5:c.1645C>T , LRG_688t1:c.1645C>T | NP_714915.3:p.Arg549Cys | |
| NR_024522.1:n.1716C>T | ||
| XM_006716686.2:c.1342C>T | XP_006716749.1:p.Arg448Cys | |
| XM_006716687.2:c.1045C>T | XP_006716750.1:p.Arg349Cys | |
| XM_011517363.1:c.763C>T | XP_011515665.1:p.Arg255Cys | |
| XR_428387.1:n.1703C>T | ||
| XR_928360.1:n.1703C>T | ||
| XR_928361.1:n.1703C>T | ||
| XR_928362.1:n.1703C>T | ||
| XM_006716686.4:c.1342C>T | XP_006716749.1:p.Arg448Cys | |
| XM_011517363.3:c.763C>T | XP_011515665.1:p.Arg255Cys | |
| XM_024447326.1:c.991C>T | XP_024303094.1:p.Arg331Cys | |
| XR_001745619.2:n.1686C>T | ||
| XR_428387.2:n.1686C>T | ||
| XR_928360.3:n.1686C>T | ||
| XR_928362.3:n.1686C>T | ||
| NM_153704.6:c.1645C>T MANE Select | NP_714915.3:p.Arg549Cys | |
| NR_024522.2:n.1666C>T |