Linked Data
ClinVar Variation Id:
2066401
ClinVar RCV Id:
RCV002949073
dbSNP Id:
rs897430591
gnomAD v3:
1-75749461-G-A
gnomAD v4:
1-75749461-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749461G>A , CM000663.2:g.75749461G>A | GRCh38 |
| NC_000001.10:g.76215146G>A , CM000663.1:g.76215146G>A | GRCh37 |
| NC_000001.9:g.75987734G>A | NCBI36 |
| NG_007045.2:g.30104G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.751G>A MANE Select | ENSP00000359878.5:p.Val251Ile | |
| ENST00000473018.3:n.2875G>A | ||
| ENST00000532207.6:n.1640G>A | ||
| ENST00000541113.6:c.751G>A | ENSP00000442324.2:p.Val251Ile | |
| ENST00000679509.1:n.1713G>A | ||
| ENST00000679530.1:c.*519G>A | ENSP00000506454.1:n.*519G>A | |
| ENST00000679615.1:n.2766G>A | ||
| ENST00000679687.1:c.313G>A | ENSP00000506598.1:p.Val105Ile | |
| ENST00000679704.1:c.*517G>A | ENSP00000505117.1:n.*517G>A | |
| ENST00000679709.1:c.*714G>A | ENSP00000506623.1:n.*714G>A | |
| ENST00000679976.1:c.*335G>A | ENSP00000505565.1:n.*335G>A | |
| ENST00000680166.1:n.4040G>A | ||
| ENST00000680517.1:c.*139G>A | ENSP00000505803.1:n.*139G>A | |
| ENST00000680582.1:n.1713G>A | ||
| ENST00000680613.1:c.*122G>A | ENSP00000506114.1:n.*122G>A | |
| ENST00000680662.1:c.*665G>A | ENSP00000505080.1:n.*665G>A | |
| ENST00000680691.1:c.*414G>A | ENSP00000506487.1:n.*414G>A | |
| ENST00000680694.1:c.*339G>A | ENSP00000505658.1:n.*339G>A | |
| ENST00000680743.1:c.*418G>A | ENSP00000505073.1:n.*418G>A | |
| ENST00000680749.1:c.*36G>A | ENSP00000505122.1:n.*36G>A | |
| ENST00000680798.1:c.*226G>A | ENSP00000505670.1:n.*226G>A | |
| ENST00000680805.1:c.709-990G>A | ENSP00000505447.1:n.709-990G>A | |
| ENST00000680844.1:c.*535G>A | ENSP00000506541.1:n.*535G>A | |
| ENST00000680948.1:c.*618G>A | ENSP00000505441.1:n.*618G>A | |
| ENST00000680964.1:c.751G>A | ENSP00000505961.1:p.Val251Ile | |
| ENST00000681037.1:c.*2235G>A | ENSP00000506025.1:n.*2235G>A | |
| ENST00000681063.1:c.600-990G>A | ENSP00000506616.1:n.600-990G>A | |
| ENST00000681209.1:c.*406G>A | ENSP00000505877.1:n.*406G>A | |
| ENST00000681278.1:n.1108G>A | ||
| ENST00000681289.1:n.4746G>A | ||
| ENST00000681361.1:c.*418G>A | ENSP00000506679.1:n.*418G>A | |
| ENST00000681430.1:c.751G>A | ENSP00000506301.1:p.Val251Ile | |
| ENST00000681446.1:c.*333G>A | ENSP00000506244.1:n.*333G>A | |
| ENST00000681450.1:c.*422G>A | ENSP00000505660.1:n.*422G>A | |
| ENST00000681548.1:c.*337G>A | ENSP00000505275.1:n.*337G>A | |
| ENST00000681616.1:c.*410G>A | ENSP00000505111.1:n.*410G>A | |
| ENST00000681621.1:c.*335G>A | ENSP00000505770.1:n.*335G>A | |
| ENST00000681680.1:n.2846G>A | ||
| ENST00000681720.1:c.*206G>A | ENSP00000505438.1:n.*206G>A | |
| ENST00000681730.1:n.973G>A | ||
| ENST00000681790.1:c.493G>A | ENSP00000505130.1:p.Val165Ile | |
| ENST00000681837.1:n.1367G>A | ||
| ENST00000681913.1:n.2875G>A | ||
| ENST00000681916.1:c.*519G>A | ENSP00000506477.1:n.*519G>A | |
| ENST00000681930.1:n.2875G>A | ||
| ENST00000370834.9:c.850G>A | ENSP00000359871.5:p.Val284Ile | |
| ENST00000370841.8:c.751G>A | ENSP00000359878.4:p.Val251Ile | |
| ENST00000420607.6:c.763G>A | ENSP00000409612.2:p.Val255Ile | |
| ENST00000525808.5:c.*337G>A | ENSP00000434823.1:n.*337G>A | |
| ENST00000526129.5:c.*535G>A | ENSP00000434092.1:n.*535G>A | |
| ENST00000526196.5:c.*519G>A | ENSP00000431953.1:n.*519G>A | |
| ENST00000526930.1:n.524G>A | ||
| ENST00000529059.5:n.660G>A | ||
| ENST00000530953.6:c.*248G>A | ENSP00000431372.1:n.*248G>A | |
| ENST00000532207.5:n.481G>A | ||
| ENST00000532509.5:c.*515G>A | ENSP00000432522.1:n.*515G>A | |
| ENST00000534334.5:c.*335G>A | ENSP00000435584.1:n.*335G>A | |
| ENST00000541113.5:c.643G>A | ENSP00000442324.1:p.Val215Ile | |
| NM_000016.5:c.751G>A | NP_000007.1:p.Val251Ile | |
| NM_001127328.2:c.763G>A | NP_001120800.1:p.Val255Ile | |
| NM_001286042.1:c.643G>A | NP_001272971.1:p.Val215Ile | |
| NM_001286043.1:c.850G>A | NP_001272972.1:p.Val284Ile | |
| NM_001286044.1:c.184G>A | NP_001272973.1:p.Val62Ile | |
| NM_000016.6:c.751G>A MANE Select | NP_000007.1:p.Val251Ile | |
| NM_001127328.3:c.763G>A | NP_001120800.1:p.Val255Ile | |
| NM_001286042.2:c.643G>A | NP_001272971.1:p.Val215Ile | |
| NM_001286043.2:c.850G>A | NP_001272972.1:p.Val284Ile | |
| NM_001286044.2:c.184G>A | NP_001272973.1:p.Val62Ile |