Linked Data
ClinVar Variation Id:
1042820
ClinVar RCV Id:
RCV001346835
dbSNP Id:
rs45550133
ExAC:
1:11861293 G / A
gnomAD v2:
1-11861293-G-A
gnomAD v3:
1-11801236-G-A
gnomAD v4:
1-11801236-G-A
COSMIC:
COSM675065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11801236G>A , CM000663.2:g.11801236G>A | GRCh38 |
| NC_000001.10:g.11861293G>A , CM000663.1:g.11861293G>A | GRCh37 |
| NC_000001.9:g.11783880G>A | NCBI36 |
| NG_008766.1:g.87G>A | |
| NG_013351.1:g.9868C>T , LRG_726:g.9868C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.400C>T | ENSP00000365669.3:p.Arg134Cys | |
| ENST00000376585.6:c.523C>T | ENSP00000365770.1:p.Arg175Cys | |
| ENST00000376590.9:c.400C>T MANE Select | ENSP00000365775.3:p.Arg134Cys | |
| ENST00000376592.6:c.400C>T | ENSP00000365777.1:p.Arg134Cys | |
| ENST00000423400.7:c.520C>T | ENSP00000398908.3:p.Arg174Cys | |
| ENST00000641407.1:c.400C>T | ENSP00000493098.1:p.Arg134Cys | |
| ENST00000641437.1:n.532C>T | ||
| ENST00000641446.1:c.400C>T | ENSP00000493262.1:p.Arg134Cys | |
| ENST00000641721.1:n.457C>T | ||
| ENST00000641747.1:c.237-914C>T | ENSP00000493116.1:n.237-914C>T | |
| ENST00000641759.1:n.535C>T | ||
| ENST00000641805.1:n.683C>T | ||
| ENST00000641909.1:n.810C>T | ||
| ENST00000376583.7:c.523C>T | ENSP00000365767.3:p.Arg175Cys | |
| ENST00000376585.5:c.523C>T | ENSP00000365770.1:p.Arg175Cys | |
| ENST00000376590.7:c.400C>T | ENSP00000365775.3:p.Arg134Cys | |
| ENST00000376592.5:c.400C>T | ENSP00000365777.1:p.Arg134Cys | |
| ENST00000418034.1:c.400C>T | ENSP00000405082.1:p.Arg134Cys | |
| NM_005957.4:c.400C>T , LRG_726t1:c.400C>T | NP_005948.3:p.Arg134Cys | |
| XM_005263458.2:c.523C>T | XP_005263515.1:p.Arg175Cys | |
| XM_005263460.3:c.400C>T | XP_005263517.1:p.Arg134Cys | |
| XM_005263461.3:c.400C>T | XP_005263518.1:p.Arg134Cys | |
| XM_005263462.3:c.400C>T | XP_005263519.1:p.Arg134Cys | |
| XM_005263463.2:c.154C>T | XP_005263520.1:p.Arg52Cys | |
| XM_011541495.1:c.520C>T | XP_011539797.1:p.Arg174Cys | |
| XM_011541496.1:c.523C>T | XP_011539798.1:p.Arg175Cys | |
| NM_001330358.1:c.523C>T | NP_001317287.1:p.Arg175Cys | |
| XM_005263460.5:c.400C>T | XP_005263517.1:p.Arg134Cys | |
| XM_005263462.4:c.400C>T | XP_005263519.1:p.Arg134Cys | |
| XM_005263463.4:c.154C>T | XP_005263520.1:p.Arg52Cys | |
| XM_011541495.3:c.520C>T | XP_011539797.1:p.Arg174Cys | |
| XM_011541496.3:c.523C>T | XP_011539798.1:p.Arg175Cys | |
| XM_017001328.2:c.523C>T | XP_016856817.1:p.Arg175Cys | |
| XM_024447198.1:c.154C>T | XP_024302966.1:p.Arg52Cys | |
| XR_002956640.1:n.1267C>T | ||
| NM_005957.5:c.400C>T MANE Select | NP_005948.3:p.Arg134Cys | |
| NM_001330358.2:c.523C>T | NP_001317287.1:p.Arg175Cys |