Linked Data
dbSNP Id:
rs754383647
ExAC:
1:76216169 G / A
gnomAD v2:
1-76216169-G-A
gnomAD v4:
1-75750484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750484G>A , CM000663.2:g.75750484G>A | GRCh38 |
| NC_000001.10:g.76216169G>A , CM000663.1:g.76216169G>A | GRCh37 |
| NC_000001.9:g.75988757G>A | NCBI36 |
| NG_007045.2:g.31127G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.883G>A MANE Select | ENSP00000359878.5:p.Ala295Thr | |
| ENST00000473018.3:n.3007G>A | ||
| ENST00000532207.6:n.1772G>A | ||
| ENST00000541113.6:c.849+925G>A | ENSP00000442324.2:n.849+925G>A | |
| ENST00000679509.1:n.1845G>A | ||
| ENST00000679530.1:c.*651G>A | ENSP00000506454.1:n.*651G>A | |
| ENST00000679615.1:n.2898G>A | ||
| ENST00000679687.1:c.445G>A | ENSP00000506598.1:p.Ala149Thr | |
| ENST00000679704.1:c.*649G>A | ENSP00000505117.1:n.*649G>A | |
| ENST00000679709.1:c.*846G>A | ENSP00000506623.1:n.*846G>A | |
| ENST00000679976.1:c.*467G>A | ENSP00000505565.1:n.*467G>A | |
| ENST00000680166.1:n.4172G>A | ||
| ENST00000680315.1:n.766G>A | ||
| ENST00000680517.1:c.*271G>A | ENSP00000505803.1:n.*271G>A | |
| ENST00000680582.1:n.1845G>A | ||
| ENST00000680613.1:c.*254G>A | ENSP00000506114.1:n.*254G>A | |
| ENST00000680662.1:c.*797G>A | ENSP00000505080.1:n.*797G>A | |
| ENST00000680691.1:c.*546G>A | ENSP00000506487.1:n.*546G>A | |
| ENST00000680694.1:c.*471G>A | ENSP00000505658.1:n.*471G>A | |
| ENST00000680743.1:c.*550G>A | ENSP00000505073.1:n.*550G>A | |
| ENST00000680749.1:c.*168G>A | ENSP00000505122.1:n.*168G>A | |
| ENST00000680798.1:c.*358G>A | ENSP00000505670.1:n.*358G>A | |
| ENST00000680805.1:c.742G>A | ENSP00000505447.1:p.Ala248Thr | |
| ENST00000680844.1:c.*667G>A | ENSP00000506541.1:n.*667G>A | |
| ENST00000680948.1:c.*750G>A | ENSP00000505441.1:n.*750G>A | |
| ENST00000680964.1:c.883G>A | ENSP00000505961.1:p.Ala295Thr | |
| ENST00000681037.1:c.*2367G>A | ENSP00000506025.1:n.*2367G>A | |
| ENST00000681063.1:c.*30G>A | ENSP00000506616.1:n.*30G>A | |
| ENST00000681209.1:c.*538G>A | ENSP00000505877.1:n.*538G>A | |
| ENST00000681278.1:n.1240G>A | ||
| ENST00000681289.1:n.4878G>A | ||
| ENST00000681361.1:c.*550G>A | ENSP00000506679.1:n.*550G>A | |
| ENST00000681430.1:c.883G>A | ENSP00000506301.1:p.Ala295Thr | |
| ENST00000681446.1:c.*465G>A | ENSP00000506244.1:n.*465G>A | |
| ENST00000681450.1:c.*554G>A | ENSP00000505660.1:n.*554G>A | |
| ENST00000681548.1:c.*469G>A | ENSP00000505275.1:n.*469G>A | |
| ENST00000681616.1:c.*542G>A | ENSP00000505111.1:n.*542G>A | |
| ENST00000681621.1:c.*467G>A | ENSP00000505770.1:n.*467G>A | |
| ENST00000681680.1:n.2978G>A | ||
| ENST00000681720.1:c.*338G>A | ENSP00000505438.1:n.*338G>A | |
| ENST00000681730.1:n.1105G>A | ||
| ENST00000681790.1:c.625G>A | ENSP00000505130.1:p.Ala209Thr | |
| ENST00000681837.1:n.1499G>A | ||
| ENST00000681913.1:n.3007G>A | ||
| ENST00000681916.1:c.*651G>A | ENSP00000506477.1:n.*651G>A | |
| ENST00000681930.1:n.3007G>A | ||
| ENST00000370834.9:c.982G>A | ENSP00000359871.5:p.Ala328Thr | |
| ENST00000370841.8:c.883G>A | ENSP00000359878.4:p.Ala295Thr | |
| ENST00000420607.6:c.895G>A | ENSP00000409612.2:p.Ala299Thr | |
| ENST00000481374.1:n.34G>A | ||
| ENST00000525808.5:c.*469G>A | ENSP00000434823.1:n.*469G>A | |
| ENST00000526129.5:c.*667G>A | ENSP00000434092.1:n.*667G>A | |
| ENST00000526196.5:c.*651G>A | ENSP00000431953.1:n.*651G>A | |
| ENST00000528016.1:c.97G>A | ENSP00000434284.1:p.Ala33Thr | |
| ENST00000529059.5:n.792G>A | ||
| ENST00000532207.5:n.613G>A | ||
| ENST00000534334.5:c.*467G>A | ENSP00000435584.1:n.*467G>A | |
| ENST00000541113.5:c.775G>A | ENSP00000442324.1:p.Ala259Thr | |
| NM_000016.5:c.883G>A | NP_000007.1:p.Ala295Thr | |
| NM_001127328.2:c.895G>A | NP_001120800.1:p.Ala299Thr | |
| NM_001286042.1:c.775G>A | NP_001272971.1:p.Ala259Thr | |
| NM_001286043.1:c.982G>A | NP_001272972.1:p.Ala328Thr | |
| NM_001286044.1:c.316G>A | NP_001272973.1:p.Ala106Thr | |
| NM_000016.6:c.883G>A MANE Select | NP_000007.1:p.Ala295Thr | |
| NM_001127328.3:c.895G>A | NP_001120800.1:p.Ala299Thr | |
| NM_001286042.2:c.775G>A | NP_001272971.1:p.Ala259Thr | |
| NM_001286043.2:c.982G>A | NP_001272972.1:p.Ala328Thr | |
| NM_001286044.2:c.316G>A | NP_001272973.1:p.Ala106Thr |