Linked Data
ClinVar Variation Id:
56215
ClinVar RCV Id:
RCV000049626
dbSNP Id:
rs386833666
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40076891C>A , CM000663.2:g.40076891C>A | GRCh38 |
| NC_000001.10:g.40542563C>A , CM000663.1:g.40542563C>A | GRCh37 |
| NC_000001.9:g.40315150C>A | NCBI36 |
| NG_009192.1:g.25580G>T , LRG_690:g.25580G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.746G>T | ENSP00000394863.4:p.Gly249Val | |
| ENST00000439754.6:c.726+1669G>T | ENSP00000403207.2:n.726+1669G>T | |
| ENST00000449045.7:c.440G>T | ENSP00000392293.2:p.Gly147Val | |
| ENST00000527311.7:c.518G>T | ENSP00000436695.3:p.Gly173Val | |
| ENST00000530076.6:c.92G>T | ENSP00000434007.1:p.Gly31Val | |
| ENST00000530704.6:c.*372G>T | ENSP00000431655.1:n.*372G>T | |
| ENST00000641083.1:c.727G>T | ||
| ENST00000641236.1:n.986G>T | ||
| ENST00000641319.1:c.749G>T | ENSP00000493128.1:p.Gly250Val | |
| ENST00000641381.1:c.171G>T | ||
| ENST00000641471.1:c.836G>T | ENSP00000493146.1:p.Gly279Val | |
| ENST00000641691.1:c.*601G>T | ENSP00000492910.1:n.*601G>T | |
| ENST00000641924.1:c.*178G>T | ENSP00000493063.1:n.*178G>T | |
| ENST00000642050.2:c.749G>T MANE Select | ENSP00000493153.1:p.Gly250Val | |
| ENST00000372775.2:n.146G>T | ||
| ENST00000433473.7:c.749G>T | ENSP00000394863.3:p.Gly250Val | |
| ENST00000439754.5:c.411+1669G>T | ENSP00000403207.1:n.411+1669G>T | |
| ENST00000449045.6:c.440G>T | ENSP00000392293.2:p.Gly147Val | |
| ENST00000527311.6:c.524G>T | ENSP00000436695.2:p.Gly175Val | |
| ENST00000529905.5:c.749G>T | ENSP00000432053.1:p.Gly250Val | |
| ENST00000530076.5:c.92G>T | ENSP00000434007.1:p.Gly31Val | |
| ENST00000530704.5:c.*372G>T | ENSP00000431655.1:n.*372G>T | |
| NM_000310.3:c.749G>T , LRG_690t1:c.749G>T | NP_000301.1:p.Gly250Val | |
| NM_001142604.1:c.440G>T | NP_001136076.1:p.Gly147Val | |
| XM_005271008.1:c.726+1669G>T | XP_005271065.1:n.726+1669G>T | |
| NM_001363695.1:c.726+1669G>T | NP_001350624.1:n.726+1669G>T | |
| NM_000310.4:c.749G>T MANE Select | NP_000301.1:p.Gly250Val | |
| NM_001142604.2:c.440G>T | NP_001136076.1:p.Gly147Val | |
| NM_001363695.2:c.726+1669G>T | NP_001350624.1:n.726+1669G>T |