Linked Data
ClinVar Variation Id:
8908
ClinVar RCV Id:
RCV000009459
dbSNP Id:
rs137852702
gnomAD v4:
1-40092498-C-T
PubMed:
PMID:17261688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092498C>T , CM000663.2:g.40092498C>T | GRCh38 |
| NC_000001.10:g.40558170C>T , CM000663.1:g.40558170C>T | GRCh37 |
| NC_000001.9:g.40330757C>T | NCBI36 |
| NG_009192.1:g.9973G>A , LRG_690:g.9973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.138G>A | ENSP00000361865.5:p.Leu46= | |
| ENST00000433473.8:c.131G>A | ENSP00000394863.4:p.Cys44Tyr | |
| ENST00000439754.6:c.134G>A | ENSP00000403207.2:p.Cys45Tyr | |
| ENST00000449045.7:c.125-2986G>A | ENSP00000392293.2:n.125-2986G>A | |
| ENST00000526547.2:c.414G>A | ||
| ENST00000527311.7:c.134G>A | ENSP00000436695.3:p.Cys45Tyr | |
| ENST00000530704.6:c.134G>A | ENSP00000431655.1:p.Cys45Tyr | |
| ENST00000641083.1:c.112G>A | ||
| ENST00000641236.1:n.146G>A | ||
| ENST00000641319.1:c.134G>A | ENSP00000493128.1:p.Cys45Tyr | |
| ENST00000641471.1:c.221G>A | ENSP00000493146.1:p.Cys74Tyr | |
| ENST00000641548.1:c.127G>A | ENSP00000492984.1:p.Val43Ile | |
| ENST00000641691.1:c.127G>A | ENSP00000492910.1:p.Val43Ile | |
| ENST00000641924.1:c.124+4617G>A | ENSP00000493063.1:n.124+4617G>A | |
| ENST00000642050.2:c.134G>A MANE Select | ENSP00000493153.1:p.Cys45Tyr | |
| ENST00000372779.8:c.221G>A | ENSP00000361865.4:p.Cys74Tyr | |
| ENST00000433473.7:c.134G>A | ENSP00000394863.3:p.Cys45Tyr | |
| ENST00000449045.6:c.125-2986G>A | ENSP00000392293.2:n.125-2986G>A | |
| ENST00000526547.1:c.-17G>A | ENSP00000436481.1:n.-17G>A | |
| ENST00000527311.6:c.125-441G>A | ENSP00000436695.2:n.125-441G>A | |
| ENST00000529905.5:c.134G>A | ENSP00000432053.1:p.Cys45Tyr | |
| ENST00000530704.5:c.134G>A | ENSP00000431655.1:p.Cys45Tyr | |
| NM_000310.3:c.134G>A , LRG_690t1:c.134G>A | NP_000301.1:p.Cys45Tyr | |
| NM_001142604.1:c.125-2986G>A | NP_001136076.1:n.125-2986G>A | |
| XM_005271008.1:c.134G>A | XP_005271065.1:p.Cys45Tyr | |
| NM_001363695.1:c.134G>A | NP_001350624.1:p.Cys45Tyr | |
| NM_000310.4:c.134G>A MANE Select | NP_000301.1:p.Cys45Tyr | |
| NM_001142604.2:c.125-2986G>A | NP_001136076.1:n.125-2986G>A | |
| NM_001363695.2:c.134G>A | NP_001350624.1:p.Cys45Tyr |