Linked Data
ClinVar Variation Id:
15937
dbSNP Id:
rs11554273
gnomAD v3:
20-58909365-C-A
gnomAD v4:
20-58909365-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58909365C>A , CM000682.2:g.58909365C>A | GRCh38 |
| NC_000020.10:g.57484420C>A , CM000682.1:g.57484420C>A | GRCh37 |
| NC_000020.9:g.56917815C>A | NCBI36 |
| NG_016194.1:g.74626C>A | |
| NG_016194.2:g.74626C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2485C>A | ENSP00000265621.6:p.Arg829Ser | |
| ENST00000419558.7:c.*459C>A | ENSP00000416234.2:n.*459C>A | |
| ENST00000453292.7:c.1200C>A | ENSP00000392000.2:n.1200C>A | |
| ENST00000462499.6:c.382C>A | ENSP00000499758.2:p.Arg128Ser | |
| ENST00000464624.7:c.*443C>A | ENSP00000499607.2:n.*443C>A | |
| ENST00000464788.6:c.424C>A | ENSP00000499239.2:p.Arg142Ser | |
| ENST00000467227.6:c.382C>A | ENSP00000499681.2:p.Arg128Ser | |
| ENST00000467321.6:c.424C>A | ENSP00000499523.2:p.Arg142Ser | |
| ENST00000468895.6:c.601C>A | ENSP00000499551.2:p.Arg201Ser | |
| ENST00000469431.6:c.424C>A | ENSP00000499654.2:p.Arg142Ser | |
| ENST00000470512.6:c.427C>A | ENSP00000499552.2:p.Arg143Ser | |
| ENST00000472183.6:c.424C>A | ENSP00000499673.2:p.Arg142Ser | |
| ENST00000475610.2:n.1107C>A | ||
| ENST00000476935.6:c.379C>A | ENSP00000499409.2:p.Arg127Ser | |
| ENST00000478585.6:c.382C>A | ENSP00000499762.2:p.Arg128Ser | |
| ENST00000480232.6:c.427C>A | ENSP00000499545.2:p.Arg143Ser | |
| ENST00000481039.6:c.382C>A | ENSP00000499767.2:p.Arg128Ser | |
| ENST00000482112.6:c.379C>A | ENSP00000499794.2:p.Arg127Ser | |
| ENST00000485673.6:c.382C>A | ENSP00000499334.2:p.Arg128Ser | |
| ENST00000488546.6:c.382C>A | ENSP00000499332.2:p.Arg128Ser | |
| ENST00000488652.6:c.424C>A | ENSP00000499435.2:p.Arg142Ser | |
| ENST00000492907.6:c.382C>A | ENSP00000499443.2:p.Arg128Ser | |
| ENST00000603546.2:c.424C>A | ENSP00000474802.2:p.Arg142Ser | |
| ENST00000604005.6:c.424C>A | ENSP00000474219.2:p.Arg142Ser | |
| ENST00000663479.2:c.427C>A | ENSP00000499353.2:p.Arg143Ser | |
| ENST00000667293.2:c.424C>A | ENSP00000499293.2:p.Arg142Ser | |
| ENST00000676826.2:c.2533C>A | ENSP00000504675.2:p.Arg845Ser | |
| ENST00000682092.1:n.4788C>A | ||
| ENST00000682134.1:n.2527C>A | ||
| ENST00000682411.1:n.2696C>A | ||
| ENST00000682590.1:n.4788C>A | ||
| ENST00000682680.1:n.4802C>A | ||
| ENST00000682803.1:c.274C>A | ENSP00000507069.1:p.Arg92Ser | |
| ENST00000682829.1:n.2929C>A | ||
| ENST00000682917.1:n.1129C>A | ||
| ENST00000682986.1:n.4921C>A | ||
| ENST00000683015.1:c.1371C>A | ENSP00000506815.1:n.1371C>A | |
| ENST00000683632.1:n.4930C>A | ||
| ENST00000683932.1:n.6377C>A | ||
| ENST00000684284.1:n.2979C>A | ||
| ENST00000684466.1:n.1240C>A | ||
| ENST00000684644.1:n.4921C>A | ||
| ENST00000684761.1:n.1094C>A | ||
| ENST00000306090.12:c.505C>A | ENSP00000304472.12:p.Arg169Ser | |
| ENST00000354359.12:c.604C>A | ENSP00000346328.7:p.Arg202Ser | |
| ENST00000371085.8:c.601C>A MANE Select | ENSP00000360126.3:p.Arg201Ser | |
| ENST00000371100.9:c.2530C>A MANE Plus Clinical | ENSP00000360141.3:p.Arg844Ser | |
| ENST00000656419.1:c.130C>A | ENSP00000499614.1:p.Arg44Ser | |
| ENST00000657090.1:c.424C>A | ENSP00000499380.1:p.Arg142Ser | |
| ENST00000667293.1:c.472C>A | ENSP00000499293.1:p.Arg158Ser | |
| ENST00000265620.11:c.556C>A | ENSP00000265620.7:p.Arg186Ser | |
| ENST00000306090.11:c.94-402C>A | ENSP00000304472.11:n.94-402C>A | |
| ENST00000313949.11:c.*504C>A | ENSP00000323571.7:n.*504C>A | |
| ENST00000354359.11:c.604C>A | ENSP00000346328.7:p.Arg202Ser | |
| ENST00000371075.7:c.*507C>A MANE Plus Clinical | ENSP00000360115.3:n.*507C>A | |
| ENST00000371085.7:c.601C>A | ENSP00000360126.3:p.Arg201Ser | |
| ENST00000371095.7:c.559C>A | ENSP00000360136.3:p.Arg187Ser | |
| ENST00000371100.8:c.2530C>A | ENSP00000360141.3:p.Arg844Ser | |
| ENST00000371102.8:c.2488C>A | ENSP00000360143.4:p.Arg830Ser | |
| ENST00000464624.6:n.2817C>A | ||
| ENST00000464788.5:n.529C>A | ||
| ENST00000467227.5:n.542C>A | ||
| ENST00000467321.5:n.616C>A | ||
| ENST00000468895.5:n.470C>A | ||
| ENST00000470512.5:n.675C>A | ||
| ENST00000472183.5:n.853C>A | ||
| ENST00000476196.5:n.894C>A | ||
| ENST00000476935.5:n.590C>A | ||
| ENST00000477931.5:n.716C>A | ||
| ENST00000479025.1:n.317C>A | ||
| ENST00000480232.5:n.620C>A | ||
| ENST00000480975.5:n.600C>A | ||
| ENST00000481039.5:n.518C>A | ||
| ENST00000482112.5:n.675C>A | ||
| ENST00000487862.5:n.835C>A | ||
| ENST00000487981.5:n.338C>A | ||
| ENST00000488546.5:n.460C>A | ||
| ENST00000488652.5:n.691C>A | ||
| ENST00000492907.5:n.552C>A | ||
| ENST00000493958.5:n.220C>A | ||
| ENST00000494081.5:n.274-319C>A | ||
| ENST00000496934.5:n.1890C>A | ||
| ENST00000604005.5:c.424C>A | ENSP00000474219.1:p.Arg142Ser | |
| NM_000516.4:c.601C>A | NP_000507.1:p.Arg201Ser | |
| NM_000516.5:c.601C>A | NP_000507.1:p.Arg201Ser | |
| NM_001077488.2:c.604C>A | NP_001070956.1:p.Arg202Ser | |
| NM_001077488.3:c.604C>A | NP_001070956.1:p.Arg202Ser | |
| NM_001077489.2:c.556C>A | NP_001070957.1:p.Arg186Ser | |
| NM_001077489.3:c.556C>A | NP_001070957.1:p.Arg186Ser | |
| NM_001077490.1:c.*462C>A | NP_001070958.1:n.*462C>A | |
| NM_001077490.2:c.*462C>A | NP_001070958.1:n.*462C>A | |
| NM_001309840.1:c.424C>A | NP_001296769.1:p.Arg142Ser | |
| NM_001309861.1:c.424C>A | NP_001296790.1:p.Arg142Ser | |
| NM_016592.2:c.*507C>A | NP_057676.1:n.*507C>A | |
| NM_016592.3:c.*507C>A | NP_057676.1:n.*507C>A | |
| NM_080425.2:c.2530C>A | NP_536350.2:p.Arg844Ser | |
| NM_080425.3:c.2530C>A | NP_536350.2:p.Arg844Ser | |
| NM_080426.2:c.559C>A | NP_536351.1:p.Arg187Ser | |
| NM_080426.3:c.559C>A | NP_536351.1:p.Arg187Ser | |
| NR_003259.1:c.-4294966605C>A | ||
| XM_017027812.2:c.2533C>A | XP_016883301.1:p.Arg845Ser | |
| XM_017027813.2:c.2488C>A | XP_016883302.1:p.Arg830Ser | |
| XM_017027814.2:c.2485C>A | XP_016883303.1:p.Arg829Ser | |
| XM_017027815.1:c.460C>A | XP_016883304.1:p.Arg154Ser | |
| XM_017027816.1:c.379C>A | XP_016883305.1:p.Arg127Ser | |
| XM_017027817.1:c.379C>A | XP_016883306.1:p.Arg127Ser | |
| XM_017027818.2:c.379C>A | XP_016883307.1:p.Arg127Ser | |
| XM_017027819.1:c.379C>A | XP_016883308.1:p.Arg127Ser | |
| XM_017027820.1:c.379C>A | XP_016883309.1:p.Arg127Ser | |
| XM_017027821.1:c.*504C>A | XP_016883310.1:n.*504C>A | |
| XM_024451872.1:c.505C>A | XP_024307640.1:p.Arg169Ser | |
| XM_024451873.1:c.424C>A | XP_024307641.1:p.Arg142Ser | |
| XM_024451874.1:c.424C>A | XP_024307642.1:p.Arg142Ser | |
| XM_024451875.1:c.424C>A | XP_024307643.1:p.Arg142Ser | |
| XR_002958471.1:n.1308C>A | ||
| NM_000516.6:c.601C>A | NP_000507.1:p.Arg201Ser | |
| NM_001077488.4:c.604C>A | NP_001070956.1:p.Arg202Ser | |
| NM_001077489.4:c.556C>A | NP_001070957.1:p.Arg186Ser | |
| NM_001309840.2:c.424C>A | NP_001296769.1:p.Arg142Ser | |
| NM_001309861.2:c.424C>A | NP_001296790.1:p.Arg142Ser | |
| NM_016592.4:c.*507C>A | NP_057676.1:n.*507C>A | |
| NM_080426.4:c.559C>A | NP_536351.1:p.Arg187Ser | |
| NM_000516.7:c.601C>A MANE Select | NP_000507.1:p.Arg201Ser | |
| NM_001077488.5:c.604C>A | NP_001070956.1:p.Arg202Ser | |
| NM_001077490.3:c.*462C>A | NP_001070958.1:n.*462C>A | |
| NM_016592.5:c.*507C>A MANE Plus Clinical | NP_057676.1:n.*507C>A | |
| NM_080425.4:c.2530C>A MANE Plus Clinical | NP_536350.2:p.Arg844Ser |