Linked Data
ClinVar Variation Id:
206649
ClinVar RCV Id:
RCV000641282
dbSNP Id:
rs376715840
ExAC:
1:40546110 G / A
gnomAD v2:
1-40546110-G-A
gnomAD v3:
1-40080438-G-A
gnomAD v4:
1-40080438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080438G>A , CM000663.2:g.40080438G>A | GRCh38 |
| NC_000001.10:g.40546110G>A , CM000663.1:g.40546110G>A | GRCh37 |
| NC_000001.9:g.40318697G>A | NCBI36 |
| NG_009192.1:g.22033C>T , LRG_690:g.22033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.583C>T | ENSP00000394863.4:p.Arg195Cys | |
| ENST00000439754.6:c.586C>T | ENSP00000403207.2:p.Arg196Cys | |
| ENST00000449045.7:c.277C>T | ENSP00000392293.2:p.Arg93Cys | |
| ENST00000527311.7:c.355C>T | ENSP00000436695.3:p.Arg119Cys | |
| ENST00000530076.6:c.-72C>T | ENSP00000434007.1:n.-72C>T | |
| ENST00000530704.6:c.*209C>T | ENSP00000431655.1:n.*209C>T | |
| ENST00000641083.1:c.564C>T | ||
| ENST00000641236.1:n.823C>T | ||
| ENST00000641319.1:c.586C>T | ENSP00000493128.1:p.Arg196Cys | |
| ENST00000641381.1:c.149-3525C>T | ||
| ENST00000641471.1:c.673C>T | ENSP00000493146.1:p.Arg225Cys | |
| ENST00000641691.1:c.*438C>T | ENSP00000492910.1:n.*438C>T | |
| ENST00000641924.1:c.*15C>T | ENSP00000493063.1:n.*15C>T | |
| ENST00000642050.2:c.586C>T MANE Select | ENSP00000493153.1:p.Arg196Cys | |
| ENST00000372779.8:c.673C>T | ENSP00000361865.4:p.Arg225Cys | |
| ENST00000433473.7:c.586C>T | ENSP00000394863.3:p.Arg196Cys | |
| ENST00000439754.5:c.271C>T | ENSP00000403207.1:p.Arg91Cys | |
| ENST00000449045.6:c.277C>T | ENSP00000392293.2:p.Arg93Cys | |
| ENST00000527311.6:c.361C>T | ENSP00000436695.2:p.Arg121Cys | |
| ENST00000529905.5:c.586C>T | ENSP00000432053.1:p.Arg196Cys | |
| ENST00000530076.5:c.-72C>T | ENSP00000434007.1:n.-72C>T | |
| ENST00000530704.5:c.*209C>T | ENSP00000431655.1:n.*209C>T | |
| NM_000310.3:c.586C>T , LRG_690t1:c.586C>T | NP_000301.1:p.Arg196Cys | |
| NM_001142604.1:c.277C>T | NP_001136076.1:p.Arg93Cys | |
| XM_005271008.1:c.586C>T | XP_005271065.1:p.Arg196Cys | |
| NM_001363695.1:c.586C>T | NP_001350624.1:p.Arg196Cys | |
| NM_000310.4:c.586C>T MANE Select | NP_000301.1:p.Arg196Cys | |
| NM_001142604.2:c.277C>T | NP_001136076.1:p.Arg93Cys | |
| NM_001363695.2:c.586C>T | NP_001350624.1:p.Arg196Cys |