Linked Data
ClinVar Variation Id:
1987326
ClinVar RCV Id:
RCV002775901
dbSNP Id:
rs757873631
ExAC:
11:118963868 C / T
gnomAD v2:
11-118963868-C-T
gnomAD v4:
11-119093158-C-T
COSMIC:
COSM428533
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093158C>T , CM000673.2:g.119093158C>T | GRCh38 |
| NC_000011.9:g.118963868C>T , CM000673.1:g.118963868C>T | GRCh37 |
| NC_000011.8:g.118469078C>T | NCBI36 |
| NG_008093.1:g.13282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.796C>T | ENSP00000509288.1:p.Arg266Cys | |
| ENST00000691144.1:n.3176C>T | ||
| ENST00000691249.1:n.1785C>T | ||
| ENST00000442944.7:c.943C>T | ENSP00000392041.3:p.Arg315Cys | |
| ENST00000640813.1:c.*198C>T | ENSP00000491061.1:n.*198C>T | |
| ENST00000648026.1:c.855C>T | ENSP00000498044.1:n.855C>T | |
| ENST00000648374.1:c.910C>T | ENSP00000497255.1:p.Arg304Cys | |
| ENST00000650101.1:c.892C>T | ENSP00000496970.1:p.Arg298Cys | |
| ENST00000650307.1:n.1787C>T | ||
| ENST00000652429.1:c.961C>T MANE Select | ENSP00000498786.1:p.Arg321Cys | |
| ENST00000278715.7:c.961C>T | ENSP00000278715.3:p.Arg321Cys | |
| ENST00000392841.1:c.910C>T | ENSP00000376584.1:p.Arg304Cys | |
| ENST00000442944.6:c.910C>T | ENSP00000392041.2:p.Arg304Cys | |
| ENST00000537841.5:c.910C>T | ENSP00000444730.1:p.Arg304Cys | |
| ENST00000539045.1:n.460C>T | ||
| ENST00000542044.5:n.1406C>T | ||
| ENST00000542729.5:c.790C>T | ENSP00000443058.1:p.Arg264Cys | |
| ENST00000543090.5:c.868C>T | ENSP00000445429.1:p.Arg290Cys | |
| ENST00000543543.5:n.1436C>T | ||
| ENST00000544182.1:n.1410C>T | ||
| ENST00000544387.5:c.841C>T | ENSP00000438424.1:p.Arg281Cys | |
| ENST00000546226.5:n.1723C>T | ||
| NM_000190.3:c.961C>T | NP_000181.2:p.Arg321Cys | |
| NM_001024382.1:c.910C>T | NP_001019553.1:p.Arg304Cys | |
| NM_001258208.1:c.841C>T | NP_001245137.1:p.Arg281Cys | |
| NM_001258209.1:c.790C>T | NP_001245138.1:p.Arg264Cys | |
| XM_005271531.1:c.910C>T | XP_005271588.1:p.Arg304Cys | |
| XM_005271532.1:c.910C>T | XP_005271589.1:p.Arg304Cys | |
| XM_005271533.2:c.907C>T | XP_005271590.1:p.Arg303Cys | |
| XM_011542796.1:c.796C>T | XP_011541098.1:p.Arg266Cys | |
| NM_000190.4:c.961C>T MANE Select | NP_000181.2:p.Arg321Cys | |
| NM_001024382.2:c.910C>T | NP_001019553.1:p.Arg304Cys | |
| XM_005271533.3:c.907C>T | XP_005271590.1:p.Arg303Cys | |
| XM_017017629.1:c.910C>T | XP_016873118.1:p.Arg304Cys | |
| XM_024448460.1:c.787C>T | XP_024304228.1:p.Arg263Cys | |
| NM_001258208.2:c.841C>T | NP_001245137.1:p.Arg281Cys | |
| NM_001258209.2:c.790C>T | NP_001245138.1:p.Arg264Cys |