Linked Data
ClinVar Variation Id:
550313
ClinVar RCV Id:
RCV000665026
dbSNP Id:
rs780504551
ExAC:
1:76215238 A / T
gnomAD v2:
1-76215238-A-T
gnomAD v4:
1-75749553-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749553A>T , CM000663.2:g.75749553A>T | GRCh38 |
| NC_000001.10:g.76215238A>T , CM000663.1:g.76215238A>T | GRCh37 |
| NC_000001.9:g.75987826A>T | NCBI36 |
| NG_007045.2:g.30196A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.843A>T MANE Select | ENSP00000359878.5:p.Arg281Ser | |
| ENST00000473018.3:n.2967A>T | ||
| ENST00000532207.6:n.1732A>T | ||
| ENST00000541113.6:c.843A>T | ENSP00000442324.2:p.Arg281Ser | |
| ENST00000679509.1:n.1805A>T | ||
| ENST00000679530.1:c.*611A>T | ENSP00000506454.1:n.*611A>T | |
| ENST00000679615.1:n.2858A>T | ||
| ENST00000679687.1:c.405A>T | ENSP00000506598.1:p.Arg135Ser | |
| ENST00000679704.1:c.*609A>T | ENSP00000505117.1:n.*609A>T | |
| ENST00000679709.1:c.*806A>T | ENSP00000506623.1:n.*806A>T | |
| ENST00000679976.1:c.*427A>T | ENSP00000505565.1:n.*427A>T | |
| ENST00000680166.1:n.4132A>T | ||
| ENST00000680517.1:c.*231A>T | ENSP00000505803.1:n.*231A>T | |
| ENST00000680582.1:n.1805A>T | ||
| ENST00000680613.1:c.*214A>T | ENSP00000506114.1:n.*214A>T | |
| ENST00000680662.1:c.*757A>T | ENSP00000505080.1:n.*757A>T | |
| ENST00000680691.1:c.*506A>T | ENSP00000506487.1:n.*506A>T | |
| ENST00000680694.1:c.*431A>T | ENSP00000505658.1:n.*431A>T | |
| ENST00000680743.1:c.*510A>T | ENSP00000505073.1:n.*510A>T | |
| ENST00000680749.1:c.*128A>T | ENSP00000505122.1:n.*128A>T | |
| ENST00000680798.1:c.*318A>T | ENSP00000505670.1:n.*318A>T | |
| ENST00000680805.1:c.709-898A>T | ENSP00000505447.1:n.709-898A>T | |
| ENST00000680844.1:c.*627A>T | ENSP00000506541.1:n.*627A>T | |
| ENST00000680948.1:c.*710A>T | ENSP00000505441.1:n.*710A>T | |
| ENST00000680964.1:c.843A>T | ENSP00000505961.1:p.Arg281Ser | |
| ENST00000681037.1:c.*2327A>T | ENSP00000506025.1:n.*2327A>T | |
| ENST00000681063.1:c.600-898A>T | ENSP00000506616.1:n.600-898A>T | |
| ENST00000681209.1:c.*498A>T | ENSP00000505877.1:n.*498A>T | |
| ENST00000681278.1:n.1200A>T | ||
| ENST00000681289.1:n.4838A>T | ||
| ENST00000681361.1:c.*510A>T | ENSP00000506679.1:n.*510A>T | |
| ENST00000681430.1:c.843A>T | ENSP00000506301.1:p.Arg281Ser | |
| ENST00000681446.1:c.*425A>T | ENSP00000506244.1:n.*425A>T | |
| ENST00000681450.1:c.*514A>T | ENSP00000505660.1:n.*514A>T | |
| ENST00000681548.1:c.*429A>T | ENSP00000505275.1:n.*429A>T | |
| ENST00000681616.1:c.*502A>T | ENSP00000505111.1:n.*502A>T | |
| ENST00000681621.1:c.*427A>T | ENSP00000505770.1:n.*427A>T | |
| ENST00000681680.1:n.2938A>T | ||
| ENST00000681720.1:c.*298A>T | ENSP00000505438.1:n.*298A>T | |
| ENST00000681730.1:n.1065A>T | ||
| ENST00000681790.1:c.585A>T | ENSP00000505130.1:p.Arg195Ser | |
| ENST00000681837.1:n.1459A>T | ||
| ENST00000681913.1:n.2967A>T | ||
| ENST00000681916.1:c.*611A>T | ENSP00000506477.1:n.*611A>T | |
| ENST00000681930.1:n.2967A>T | ||
| ENST00000370834.9:c.942A>T | ENSP00000359871.5:p.Arg314Ser | |
| ENST00000370841.8:c.843A>T | ENSP00000359878.4:p.Arg281Ser | |
| ENST00000420607.6:c.855A>T | ENSP00000409612.2:p.Arg285Ser | |
| ENST00000525808.5:c.*429A>T | ENSP00000434823.1:n.*429A>T | |
| ENST00000526129.5:c.*627A>T | ENSP00000434092.1:n.*627A>T | |
| ENST00000526196.5:c.*611A>T | ENSP00000431953.1:n.*611A>T | |
| ENST00000528016.1:c.57A>T | ENSP00000434284.1:p.Arg19Ser | |
| ENST00000529059.5:n.752A>T | ||
| ENST00000532207.5:n.573A>T | ||
| ENST00000532509.5:c.*607A>T | ENSP00000432522.1:n.*607A>T | |
| ENST00000534334.5:c.*427A>T | ENSP00000435584.1:n.*427A>T | |
| ENST00000541113.5:c.735A>T | ENSP00000442324.1:p.Arg245Ser | |
| NM_000016.5:c.843A>T | NP_000007.1:p.Arg281Ser | |
| NM_001127328.2:c.855A>T | NP_001120800.1:p.Arg285Ser | |
| NM_001286042.1:c.735A>T | NP_001272971.1:p.Arg245Ser | |
| NM_001286043.1:c.942A>T | NP_001272972.1:p.Arg314Ser | |
| NM_001286044.1:c.276A>T | NP_001272973.1:p.Arg92Ser | |
| NM_000016.6:c.843A>T MANE Select | NP_000007.1:p.Arg281Ser | |
| NM_001127328.3:c.855A>T | NP_001120800.1:p.Arg285Ser | |
| NM_001286042.2:c.735A>T | NP_001272971.1:p.Arg245Ser | |
| NM_001286043.2:c.942A>T | NP_001272972.1:p.Arg314Ser | |
| NM_001286044.2:c.276A>T | NP_001272973.1:p.Arg92Ser |