Linked Data
ClinVar Variation Id:
56195
ClinVar RCV Id:
RCV000049606
dbSNP Id:
rs386833647
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40089491C>T , CM000663.2:g.40089491C>T | GRCh38 |
| NC_000001.10:g.40555163C>T , CM000663.1:g.40555163C>T | GRCh37 |
| NC_000001.9:g.40327750C>T | NCBI36 |
| NG_009192.1:g.12980G>A , LRG_690:g.12980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*291G>A | ENSP00000361865.5:n.*291G>A | |
| ENST00000433473.8:c.452G>A | ENSP00000394863.4:p.Cys151Tyr | |
| ENST00000439754.6:c.455G>A | ENSP00000403207.2:p.Cys152Tyr | |
| ENST00000449045.7:c.146G>A | ENSP00000392293.2:p.Cys49Tyr | |
| ENST00000527311.7:c.305+1838G>A | ENSP00000436695.3:n.305+1838G>A | |
| ENST00000530704.6:c.*78G>A | ENSP00000431655.1:n.*78G>A | |
| ENST00000641083.1:c.433G>A | ||
| ENST00000641236.1:n.692G>A | ||
| ENST00000641319.1:c.455G>A | ENSP00000493128.1:p.Cys152Tyr | |
| ENST00000641381.1:c.67G>A | ||
| ENST00000641471.1:c.542G>A | ENSP00000493146.1:p.Cys181Tyr | |
| ENST00000641691.1:c.*307G>A | ENSP00000492910.1:n.*307G>A | |
| ENST00000641924.1:c.124+7624G>A | ENSP00000493063.1:n.124+7624G>A | |
| ENST00000642050.2:c.455G>A MANE Select | ENSP00000493153.1:p.Cys152Tyr | |
| ENST00000372779.8:c.542G>A | ENSP00000361865.4:p.Cys181Tyr | |
| ENST00000433473.7:c.455G>A | ENSP00000394863.3:p.Cys152Tyr | |
| ENST00000439754.5:c.140G>A | ENSP00000403207.1:p.Cys47Tyr | |
| ENST00000449045.6:c.146G>A | ENSP00000392293.2:p.Cys49Tyr | |
| ENST00000527311.6:c.230G>A | ENSP00000436695.2:p.Cys77Tyr | |
| ENST00000529905.5:c.455G>A | ENSP00000432053.1:p.Cys152Tyr | |
| ENST00000530704.5:c.*78G>A | ENSP00000431655.1:n.*78G>A | |
| NM_000310.3:c.455G>A , LRG_690t1:c.455G>A | NP_000301.1:p.Cys152Tyr | |
| NM_001142604.1:c.146G>A | NP_001136076.1:p.Cys49Tyr | |
| XM_005271008.1:c.455G>A | XP_005271065.1:p.Cys152Tyr | |
| NM_001363695.1:c.455G>A | NP_001350624.1:p.Cys152Tyr | |
| NM_000310.4:c.455G>A MANE Select | NP_000301.1:p.Cys152Tyr | |
| NM_001142604.2:c.146G>A | NP_001136076.1:p.Cys49Tyr | |
| NM_001363695.2:c.455G>A | NP_001350624.1:p.Cys152Tyr |