Linked Data
ClinVar Variation Id:
317258
dbSNP Id:
rs143105092
ExAC:
15:89803982 C / T
gnomAD v2:
15-89803982-C-T
gnomAD v3:
15-89260751-C-T
gnomAD v4:
15-89260751-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89260751C>T , CM000677.2:g.89260751C>T | GRCh38 |
| NC_000015.9:g.89803982C>T , CM000677.1:g.89803982C>T | GRCh37 |
| NC_000015.8:g.87604986C>T | NCBI36 |
| NG_011736.1:g.21789C>T , LRG_500:g.21789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.-84C>T | ENSP00000512830.1:n.-84C>T | |
| ENST00000696718.1:c.-249-834C>T | ENSP00000512831.1:n.-249-834C>T | |
| ENST00000696719.1:c.196C>T | ENSP00000512832.1:p.Arg66Cys | |
| ENST00000696720.1:n.376C>T | ||
| ENST00000310775.12:c.196C>T MANE Select | ENSP00000310842.8:p.Arg66Cys | |
| ENST00000674831.1:c.196C>T | ENSP00000502474.1:p.Arg66Cys | |
| ENST00000676003.1:c.196C>T | ENSP00000502254.1:p.Arg66Cys | |
| ENST00000300027.12:c.196C>T | ENSP00000300027.8:p.Arg66Cys | |
| ENST00000310775.11:c.196C>T | ENSP00000310842.7:p.Arg66Cys | |
| ENST00000447611.6:c.196C>T | ENSP00000413249.2:p.Arg66Cys | |
| ENST00000563250.5:c.196C>T | ENSP00000457029.1:p.Arg66Cys | |
| ENST00000564920.5:c.196C>T | ENSP00000456552.1:p.Arg66Cys | |
| ENST00000565255.5:c.196C>T | ENSP00000454371.1:p.Arg66Cys | |
| ENST00000565522.5:n.129+13025C>T | ||
| ENST00000567891.5:c.196C>T | ENSP00000455735.1:p.Arg66Cys | |
| ENST00000567996.5:c.196C>T | ENSP00000458024.1:p.Arg66Cys | |
| ENST00000568670.5:n.271C>T | ||
| NM_001113378.1:c.196C>T , LRG_500t1:c.196C>T | NP_001106849.1:p.Arg66Cys | |
| NM_018193.2:c.196C>T | NP_060663.2:p.Arg66Cys | |
| XM_011521756.1:c.196C>T | XP_011520058.1:p.Arg66Cys | |
| XM_011521757.1:c.196C>T | XP_011520059.1:p.Arg66Cys | |
| XM_011521758.1:c.196C>T | XP_011520060.1:p.Arg66Cys | |
| XM_011521759.1:c.196C>T | XP_011520061.1:p.Arg66Cys | |
| XM_011521760.1:c.196C>T | XP_011520062.1:p.Arg66Cys | |
| XM_011521761.1:c.196C>T | XP_011520063.1:p.Arg66Cys | |
| XM_011521762.1:c.196C>T | XP_011520064.1:p.Arg66Cys | |
| XM_011521763.1:c.196C>T | XP_011520065.1:p.Arg66Cys | |
| XM_011521764.1:c.196C>T | XP_011520066.1:p.Arg66Cys | |
| XM_011521765.1:c.-84C>T | XP_011520067.1:n.-84C>T | |
| XM_011521766.1:c.-84C>T | XP_011520068.1:n.-84C>T | |
| XM_011521767.1:c.-84C>T | XP_011520069.1:n.-84C>T | |
| XM_011521768.1:c.196C>T | XP_011520070.1:p.Arg66Cys | |
| XM_011521769.1:c.196C>T | XP_011520071.1:p.Arg66Cys | |
| XM_011521756.2:c.196C>T | XP_011520058.1:p.Arg66Cys | |
| XM_011521757.2:c.196C>T | XP_011520059.1:p.Arg66Cys | |
| XM_011521764.2:c.196C>T | XP_011520066.1:p.Arg66Cys | |
| XM_011521767.2:c.-84C>T | XP_011520069.1:n.-84C>T | |
| NM_001113378.2:c.196C>T MANE Select | NP_001106849.1:p.Arg66Cys | |
| NM_001376910.1:c.-84C>T | NP_001363839.1:n.-84C>T | |
| NM_001376911.1:c.196C>T | NP_001363840.1:p.Arg66Cys | |
| NM_018193.3:c.196C>T | NP_060663.2:p.Arg66Cys |