Linked Data
ClinVar Variation Id:
56196
ClinVar RCV Id:
RCV000049607
dbSNP Id:
rs386833648
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40089490G>T , CM000663.2:g.40089490G>T | GRCh38 |
| NC_000001.10:g.40555162G>T , CM000663.1:g.40555162G>T | GRCh37 |
| NC_000001.9:g.40327749G>T | NCBI36 |
| NG_009192.1:g.12981C>A , LRG_690:g.12981C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*292C>A | ENSP00000361865.5:n.*292C>A | |
| ENST00000433473.8:c.453C>A | ENSP00000394863.4:p.Cys151Ter | |
| ENST00000439754.6:c.456C>A | ENSP00000403207.2:p.Cys152Ter | |
| ENST00000449045.7:c.147C>A | ENSP00000392293.2:p.Cys49Ter | |
| ENST00000527311.7:c.305+1839C>A | ENSP00000436695.3:n.305+1839C>A | |
| ENST00000530704.6:c.*79C>A | ENSP00000431655.1:n.*79C>A | |
| ENST00000641083.1:c.434C>A | ||
| ENST00000641236.1:n.693C>A | ||
| ENST00000641319.1:c.456C>A | ENSP00000493128.1:p.Cys152Ter | |
| ENST00000641381.1:c.68C>A | ||
| ENST00000641471.1:c.543C>A | ENSP00000493146.1:p.Cys181Ter | |
| ENST00000641691.1:c.*308C>A | ENSP00000492910.1:n.*308C>A | |
| ENST00000641924.1:c.124+7625C>A | ENSP00000493063.1:n.124+7625C>A | |
| ENST00000642050.2:c.456C>A MANE Select | ENSP00000493153.1:p.Cys152Ter | |
| ENST00000372779.8:c.543C>A | ENSP00000361865.4:p.Cys181Ter | |
| ENST00000433473.7:c.456C>A | ENSP00000394863.3:p.Cys152Ter | |
| ENST00000439754.5:c.141C>A | ENSP00000403207.1:p.Cys47Ter | |
| ENST00000449045.6:c.147C>A | ENSP00000392293.2:p.Cys49Ter | |
| ENST00000527311.6:c.231C>A | ENSP00000436695.2:p.Cys77Ter | |
| ENST00000529905.5:c.456C>A | ENSP00000432053.1:p.Cys152Ter | |
| ENST00000530704.5:c.*79C>A | ENSP00000431655.1:n.*79C>A | |
| NM_000310.3:c.456C>A , LRG_690t1:c.456C>A | NP_000301.1:p.Cys152Ter | |
| NM_001142604.1:c.147C>A | NP_001136076.1:p.Cys49Ter | |
| XM_005271008.1:c.456C>A | XP_005271065.1:p.Cys152Ter | |
| NM_001363695.1:c.456C>A | NP_001350624.1:p.Cys152Ter | |
| NM_000310.4:c.456C>A MANE Select | NP_000301.1:p.Cys152Ter | |
| NM_001142604.2:c.147C>A | NP_001136076.1:p.Cys49Ter | |
| NM_001363695.2:c.456C>A | NP_001350624.1:p.Cys152Ter |