Linked Data
ClinVar Variation Id:
206647
dbSNP Id:
rs560471003
ExAC:
1:40555083 G / A
gnomAD v2:
1-40555083-G-A
gnomAD v3:
1-40089411-G-A
gnomAD v4:
1-40089411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40089411G>A , CM000663.2:g.40089411G>A | GRCh38 |
| NC_000001.10:g.40555083G>A , CM000663.1:g.40555083G>A | GRCh37 |
| NC_000001.9:g.40327670G>A | NCBI36 |
| NG_009192.1:g.13060C>T , LRG_690:g.13060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*371C>T | ENSP00000361865.5:n.*371C>T | |
| ENST00000433473.8:c.532C>T | ENSP00000394863.4:p.Arg178Cys | |
| ENST00000439754.6:c.535C>T | ENSP00000403207.2:p.Arg179Cys | |
| ENST00000449045.7:c.226C>T | ENSP00000392293.2:p.Arg76Cys | |
| ENST00000527311.7:c.305+1918C>T | ENSP00000436695.3:n.305+1918C>T | |
| ENST00000530704.6:c.*158C>T | ENSP00000431655.1:n.*158C>T | |
| ENST00000641083.1:c.513C>T | ||
| ENST00000641236.1:n.772C>T | ||
| ENST00000641319.1:c.535C>T | ENSP00000493128.1:p.Arg179Cys | |
| ENST00000641381.1:c.147C>T | ||
| ENST00000641471.1:c.622C>T | ENSP00000493146.1:p.Arg208Cys | |
| ENST00000641691.1:c.*387C>T | ENSP00000492910.1:n.*387C>T | |
| ENST00000641924.1:c.124+7704C>T | ENSP00000493063.1:n.124+7704C>T | |
| ENST00000642050.2:c.535C>T MANE Select | ENSP00000493153.1:p.Arg179Cys | |
| ENST00000372779.8:c.622C>T | ENSP00000361865.4:p.Arg208Cys | |
| ENST00000433473.7:c.535C>T | ENSP00000394863.3:p.Arg179Cys | |
| ENST00000439754.5:c.220C>T | ENSP00000403207.1:p.Arg74Cys | |
| ENST00000449045.6:c.226C>T | ENSP00000392293.2:p.Arg76Cys | |
| ENST00000527311.6:c.310C>T | ENSP00000436695.2:p.Arg104Cys | |
| ENST00000529905.5:c.535C>T | ENSP00000432053.1:p.Arg179Cys | |
| ENST00000530704.5:c.*158C>T | ENSP00000431655.1:n.*158C>T | |
| NM_000310.3:c.535C>T , LRG_690t1:c.535C>T | NP_000301.1:p.Arg179Cys | |
| NM_001142604.1:c.226C>T | NP_001136076.1:p.Arg76Cys | |
| XM_005271008.1:c.535C>T | XP_005271065.1:p.Arg179Cys | |
| NM_001363695.1:c.535C>T | NP_001350624.1:p.Arg179Cys | |
| NM_000310.4:c.535C>T MANE Select | NP_000301.1:p.Arg179Cys | |
| NM_001142604.2:c.226C>T | NP_001136076.1:p.Arg76Cys | |
| NM_001363695.2:c.535C>T | NP_001350624.1:p.Arg179Cys |