Linked Data
ClinVar Variation Id:
56198
dbSNP Id:
rs386833650
ExAC:
1:40555089 G / C
gnomAD v2:
1-40555089-G-C
gnomAD v3:
1-40089417-G-C
gnomAD v4:
1-40089417-G-C
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40089417G>C , CM000663.2:g.40089417G>C | GRCh38 |
| NC_000001.10:g.40555089G>C , CM000663.1:g.40555089G>C | GRCh37 |
| NC_000001.9:g.40327676G>C | NCBI36 |
| NG_009192.1:g.13054C>G , LRG_690:g.13054C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*365C>G | ENSP00000361865.5:n.*365C>G | |
| ENST00000433473.8:c.526C>G | ENSP00000394863.4:p.Gln176Glu | |
| ENST00000439754.6:c.529C>G | ENSP00000403207.2:p.Gln177Glu | |
| ENST00000449045.7:c.220C>G | ENSP00000392293.2:p.Gln74Glu | |
| ENST00000527311.7:c.305+1912C>G | ENSP00000436695.3:n.305+1912C>G | |
| ENST00000530704.6:c.*152C>G | ENSP00000431655.1:n.*152C>G | |
| ENST00000641083.1:c.507C>G | ||
| ENST00000641236.1:n.766C>G | ||
| ENST00000641319.1:c.529C>G | ENSP00000493128.1:p.Gln177Glu | |
| ENST00000641381.1:c.141C>G | ||
| ENST00000641471.1:c.616C>G | ENSP00000493146.1:p.Gln206Glu | |
| ENST00000641691.1:c.*381C>G | ENSP00000492910.1:n.*381C>G | |
| ENST00000641924.1:c.124+7698C>G | ENSP00000493063.1:n.124+7698C>G | |
| ENST00000642050.2:c.529C>G MANE Select | ENSP00000493153.1:p.Gln177Glu | |
| ENST00000372779.8:c.616C>G | ENSP00000361865.4:p.Gln206Glu | |
| ENST00000433473.7:c.529C>G | ENSP00000394863.3:p.Gln177Glu | |
| ENST00000439754.5:c.214C>G | ENSP00000403207.1:p.Gln72Glu | |
| ENST00000449045.6:c.220C>G | ENSP00000392293.2:p.Gln74Glu | |
| ENST00000527311.6:c.304C>G | ENSP00000436695.2:p.Gln102Glu | |
| ENST00000529905.5:c.529C>G | ENSP00000432053.1:p.Gln177Glu | |
| ENST00000530704.5:c.*152C>G | ENSP00000431655.1:n.*152C>G | |
| NM_000310.3:c.529C>G , LRG_690t1:c.529C>G | NP_000301.1:p.Gln177Glu | |
| NM_001142604.1:c.220C>G | NP_001136076.1:p.Gln74Glu | |
| XM_005271008.1:c.529C>G | XP_005271065.1:p.Gln177Glu | |
| NM_001363695.1:c.529C>G | NP_001350624.1:p.Gln177Glu | |
| NM_000310.4:c.529C>G MANE Select | NP_000301.1:p.Gln177Glu | |
| NM_001142604.2:c.220C>G | NP_001136076.1:p.Gln74Glu | |
| NM_001363695.2:c.529C>G | NP_001350624.1:p.Gln177Glu |