Linked Data
ClinVar Variation Id:
197681
ClinVar RCV Id:
RCV000178784
RCV001701780
RCV001701698
RCV001519408
RCV001701629
RCV001701628
RCV001701542
dbSNP Id:
rs7121
ExAC:
20:57478807 C / T
gnomAD v2:
20-57478807-C-T
gnomAD v3:
20-58903752-C-T
gnomAD v4:
20-58903752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58903752C>T , CM000682.2:g.58903752C>T | GRCh38 |
| NC_000020.10:g.57478807C>T , CM000682.1:g.57478807C>T | GRCh37 |
| NC_000020.9:g.56912202C>T | NCBI36 |
| NG_016194.1:g.69013C>T | |
| NG_016194.2:g.69013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2277C>T | ENSP00000265621.6:p.Ile759= | |
| ENST00000419558.7:c.*251C>T | ENSP00000416234.2:n.*251C>T | |
| ENST00000453292.7:c.992C>T | ENSP00000392000.2:n.992C>T | |
| ENST00000462499.6:c.174C>T | ENSP00000499758.2:p.Ile58= | |
| ENST00000464624.7:c.*235C>T | ENSP00000499607.2:n.*235C>T | |
| ENST00000464788.6:c.216C>T | ENSP00000499239.2:p.Ile72= | |
| ENST00000467227.6:c.174C>T | ENSP00000499681.2:p.Ile58= | |
| ENST00000467321.6:c.216C>T | ENSP00000499523.2:p.Ile72= | |
| ENST00000468895.6:c.393C>T | ENSP00000499551.2:p.Ile131= | |
| ENST00000469431.6:c.216C>T | ENSP00000499654.2:p.Ile72= | |
| ENST00000470512.6:c.219C>T | ENSP00000499552.2:p.Ile73= | |
| ENST00000472183.6:c.216C>T | ENSP00000499673.2:p.Ile72= | |
| ENST00000475610.2:n.899C>T | ||
| ENST00000476935.6:c.171C>T | ENSP00000499409.2:p.Ile57= | |
| ENST00000478585.6:c.174C>T | ENSP00000499762.2:p.Ile58= | |
| ENST00000480232.6:c.219C>T | ENSP00000499545.2:p.Ile73= | |
| ENST00000481039.6:c.174C>T | ENSP00000499767.2:p.Ile58= | |
| ENST00000482112.6:c.171C>T | ENSP00000499794.2:p.Ile57= | |
| ENST00000485673.6:c.174C>T | ENSP00000499334.2:p.Ile58= | |
| ENST00000488546.6:c.174C>T | ENSP00000499332.2:p.Ile58= | |
| ENST00000488652.6:c.216C>T | ENSP00000499435.2:p.Ile72= | |
| ENST00000492907.6:c.174C>T | ENSP00000499443.2:p.Ile58= | |
| ENST00000603546.2:c.216C>T | ENSP00000474802.2:p.Ile72= | |
| ENST00000604005.6:c.216C>T | ENSP00000474219.2:p.Ile72= | |
| ENST00000663479.2:c.219C>T | ENSP00000499353.2:p.Ile73= | |
| ENST00000667293.2:c.216C>T | ENSP00000499293.2:p.Ile72= | |
| ENST00000676826.2:c.2325C>T | ENSP00000504675.2:p.Ile775= | |
| ENST00000682092.1:n.899C>T | ||
| ENST00000682134.1:n.2319C>T | ||
| ENST00000682411.1:n.897C>T | ||
| ENST00000682590.1:n.899C>T | ||
| ENST00000682680.1:n.913C>T | ||
| ENST00000682803.1:c.66C>T | ENSP00000507069.1:p.Ile22= | |
| ENST00000682829.1:n.2721C>T | ||
| ENST00000682917.1:n.921C>T | ||
| ENST00000682986.1:n.899C>T | ||
| ENST00000683015.1:c.1163C>T | ENSP00000506815.1:n.1163C>T | |
| ENST00000683632.1:n.908C>T | ||
| ENST00000683932.1:n.897C>T | ||
| ENST00000684284.1:n.2771C>T | ||
| ENST00000684466.1:n.899C>T | ||
| ENST00000684644.1:n.899C>T | ||
| ENST00000684761.1:n.899C>T | ||
| ENST00000306090.12:c.297C>T | ENSP00000304472.12:p.Ile99= | |
| ENST00000349036.8:c.2277C>T | ENSP00000265621.5:p.Ile759= | |
| ENST00000354359.12:c.396C>T | ENSP00000346328.7:p.Ile132= | |
| ENST00000371085.8:c.393C>T MANE Select | ENSP00000360126.3:p.Ile131= | |
| ENST00000371100.9:c.2322C>T MANE Plus Clinical | ENSP00000360141.3:p.Ile774= | |
| ENST00000419558.6:c.*251C>T | ENSP00000416234.2:n.*251C>T | |
| ENST00000490374.6:n.558C>T | ||
| ENST00000657090.1:c.216C>T | ENSP00000499380.1:p.Ile72= | |
| ENST00000663479.1:c.219C>T | ENSP00000499353.1:p.Ile73= | |
| ENST00000667293.1:c.264C>T | ENSP00000499293.1:p.Ile88= | |
| ENST00000676826.1:c.2325C>T | ENSP00000504675.1:p.Ile775= | |
| ENST00000265620.11:c.348C>T | ENSP00000265620.7:p.Ile116= | |
| ENST00000306090.11:c.94-6015C>T | ENSP00000304472.11:n.94-6015C>T | |
| ENST00000313949.11:c.*296C>T | ENSP00000323571.7:n.*296C>T | |
| ENST00000349036.7:c.444C>T | ENSP00000265621.4:p.Ile148= | |
| ENST00000354359.11:c.396C>T | ENSP00000346328.7:p.Ile132= | |
| ENST00000371075.7:c.*299C>T MANE Plus Clinical | ENSP00000360115.3:n.*299C>T | |
| ENST00000371085.7:c.393C>T | ENSP00000360126.3:p.Ile131= | |
| ENST00000371095.7:c.351C>T | ENSP00000360136.3:p.Ile117= | |
| ENST00000371100.8:c.2322C>T | ENSP00000360141.3:p.Ile774= | |
| ENST00000371102.8:c.2280C>T | ENSP00000360143.4:p.Ile760= | |
| ENST00000419558.5:c.592C>T | ||
| ENST00000450130.5:c.436C>T | ||
| ENST00000462499.5:n.470C>T | ||
| ENST00000464624.6:n.2609C>T | ||
| ENST00000464788.5:n.321C>T | ||
| ENST00000467227.5:n.334C>T | ||
| ENST00000467321.5:n.408C>T | ||
| ENST00000468895.5:n.262C>T | ||
| ENST00000469431.5:n.510C>T | ||
| ENST00000470512.5:n.467C>T | ||
| ENST00000472183.5:n.645C>T | ||
| ENST00000476196.5:n.686C>T | ||
| ENST00000476935.5:n.382C>T | ||
| ENST00000477931.5:n.508C>T | ||
| ENST00000478585.5:n.406C>T | ||
| ENST00000480232.5:n.412C>T | ||
| ENST00000480975.5:n.392C>T | ||
| ENST00000481039.5:n.310C>T | ||
| ENST00000482112.5:n.467C>T | ||
| ENST00000485673.5:n.638C>T | ||
| ENST00000487862.5:n.627C>T | ||
| ENST00000487981.5:n.130C>T | ||
| ENST00000488546.5:n.252C>T | ||
| ENST00000488652.5:n.483C>T | ||
| ENST00000490374.5:n.511C>T | ||
| ENST00000492907.5:n.344C>T | ||
| ENST00000493958.5:n.12C>T | ||
| ENST00000494081.5:n.136C>T | ||
| ENST00000496934.5:n.1682C>T | ||
| ENST00000603546.1:c.216C>T | ENSP00000474802.1:p.Ile72= | |
| ENST00000604005.5:c.216C>T | ENSP00000474219.1:p.Ile72= | |
| NM_000516.4:c.393C>T | NP_000507.1:p.Ile131= | |
| NM_000516.5:c.393C>T | NP_000507.1:p.Ile131= | |
| NM_001077488.2:c.396C>T | NP_001070956.1:p.Ile132= | |
| NM_001077488.3:c.396C>T | NP_001070956.1:p.Ile132= | |
| NM_001077489.2:c.348C>T | NP_001070957.1:p.Ile116= | |
| NM_001077489.3:c.348C>T | NP_001070957.1:p.Ile116= | |
| NM_001077490.1:c.*254C>T | NP_001070958.1:n.*254C>T | |
| NM_001077490.2:c.*254C>T | NP_001070958.1:n.*254C>T | |
| NM_001309840.1:c.216C>T | NP_001296769.1:p.Ile72= | |
| NM_001309861.1:c.216C>T | NP_001296790.1:p.Ile72= | |
| NM_016592.2:c.*299C>T | NP_057676.1:n.*299C>T | |
| NM_016592.3:c.*299C>T | NP_057676.1:n.*299C>T | |
| NM_080425.2:c.2322C>T | NP_536350.2:p.Ile774= | |
| NM_080425.3:c.2322C>T | NP_536350.2:p.Ile774= | |
| NM_080426.2:c.351C>T | NP_536351.1:p.Ile117= | |
| NM_080426.3:c.351C>T | NP_536351.1:p.Ile117= | |
| NR_003259.1:c.-4294966813C>T | ||
| XM_017027812.2:c.2325C>T | XP_016883301.1:p.Ile775= | |
| XM_017027813.2:c.2280C>T | XP_016883302.1:p.Ile760= | |
| XM_017027814.2:c.2277C>T | XP_016883303.1:p.Ile759= | |
| XM_017027815.1:c.252C>T | XP_016883304.1:p.Ile84= | |
| XM_017027816.1:c.171C>T | XP_016883305.1:p.Ile57= | |
| XM_017027817.1:c.171C>T | XP_016883306.1:p.Ile57= | |
| XM_017027818.2:c.171C>T | XP_016883307.1:p.Ile57= | |
| XM_017027819.1:c.171C>T | XP_016883308.1:p.Ile57= | |
| XM_017027820.1:c.171C>T | XP_016883309.1:p.Ile57= | |
| XM_017027821.1:c.*296C>T | XP_016883310.1:n.*296C>T | |
| XM_024451872.1:c.297C>T | XP_024307640.1:p.Ile99= | |
| XM_024451873.1:c.216C>T | XP_024307641.1:p.Ile72= | |
| XM_024451874.1:c.216C>T | XP_024307642.1:p.Ile72= | |
| XM_024451875.1:c.216C>T | XP_024307643.1:p.Ile72= | |
| XR_002958471.1:n.1100C>T | ||
| NM_000516.6:c.393C>T | NP_000507.1:p.Ile131= | |
| NM_001077488.4:c.396C>T | NP_001070956.1:p.Ile132= | |
| NM_001077489.4:c.348C>T | NP_001070957.1:p.Ile116= | |
| NM_001309840.2:c.216C>T | NP_001296769.1:p.Ile72= | |
| NM_001309861.2:c.216C>T | NP_001296790.1:p.Ile72= | |
| NM_016592.4:c.*299C>T | NP_057676.1:n.*299C>T | |
| NM_080426.4:c.351C>T | NP_536351.1:p.Ile117= | |
| NM_000516.7:c.393C>T MANE Select | NP_000507.1:p.Ile131= | |
| NM_001077488.5:c.396C>T | NP_001070956.1:p.Ile132= | |
| NM_001077490.3:c.*254C>T | NP_001070958.1:n.*254C>T | |
| NM_016592.5:c.*299C>T MANE Plus Clinical | NP_057676.1:n.*299C>T | |
| NM_080425.4:c.2322C>T MANE Plus Clinical | NP_536350.2:p.Ile774= |