Linked Data
ClinVar Variation Id:
816910
ClinVar RCV Id:
RCV001007922
RCV001269956
RCV002283517
RCV004536045
RCV002497329
RCV002549273
RCV003336225
dbSNP Id:
rs1601162438
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58909552C>T , CM000682.2:g.58909552C>T | GRCh38 |
| NC_000020.10:g.57484607C>T , CM000682.1:g.57484607C>T | GRCh37 |
| NC_000020.9:g.56918002C>T | NCBI36 |
| NG_016194.1:g.74813C>T | |
| NG_016194.2:g.74813C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2575C>T | ENSP00000265621.6:p.Arg859Cys | |
| ENST00000419558.7:c.*549C>T | ENSP00000416234.2:n.*549C>T | |
| ENST00000453292.7:c.1290C>T | ENSP00000392000.2:n.1290C>T | |
| ENST00000462499.6:c.472C>T | ENSP00000499758.2:p.Arg158Cys | |
| ENST00000464624.7:c.*533C>T | ENSP00000499607.2:n.*533C>T | |
| ENST00000464788.6:c.514C>T | ENSP00000499239.2:p.Arg172Cys | |
| ENST00000467227.6:c.472C>T | ENSP00000499681.2:p.Arg158Cys | |
| ENST00000467321.6:c.514C>T | ENSP00000499523.2:p.Arg172Cys | |
| ENST00000468895.6:c.691C>T | ENSP00000499551.2:p.Arg231Cys | |
| ENST00000469431.6:c.514C>T | ENSP00000499654.2:p.Arg172Cys | |
| ENST00000470512.6:c.517C>T | ENSP00000499552.2:p.Arg173Cys | |
| ENST00000472183.6:c.514C>T | ENSP00000499673.2:p.Arg172Cys | |
| ENST00000475610.2:n.1197C>T | ||
| ENST00000476935.6:c.469C>T | ENSP00000499409.2:p.Arg157Cys | |
| ENST00000478585.6:c.472C>T | ENSP00000499762.2:p.Arg158Cys | |
| ENST00000480232.6:c.517C>T | ENSP00000499545.2:p.Arg173Cys | |
| ENST00000481039.6:c.472C>T | ENSP00000499767.2:p.Arg158Cys | |
| ENST00000482112.6:c.469C>T | ENSP00000499794.2:p.Arg157Cys | |
| ENST00000485673.6:c.472C>T | ENSP00000499334.2:p.Arg158Cys | |
| ENST00000488546.6:c.472C>T | ENSP00000499332.2:p.Arg158Cys | |
| ENST00000488652.6:c.514C>T | ENSP00000499435.2:p.Arg172Cys | |
| ENST00000492907.6:c.472C>T | ENSP00000499443.2:p.Arg158Cys | |
| ENST00000603546.2:c.514C>T | ENSP00000474802.2:p.Arg172Cys | |
| ENST00000604005.6:c.514C>T | ENSP00000474219.2:p.Arg172Cys | |
| ENST00000663479.2:c.517C>T | ENSP00000499353.2:p.Arg173Cys | |
| ENST00000667293.2:c.514C>T | ENSP00000499293.2:p.Arg172Cys | |
| ENST00000676826.2:c.2623C>T | ENSP00000504675.2:p.Arg875Cys | |
| ENST00000682092.1:n.4975C>T | ||
| ENST00000682134.1:n.2617C>T | ||
| ENST00000682411.1:n.2786C>T | ||
| ENST00000682590.1:n.4878C>T | ||
| ENST00000682680.1:n.4892C>T | ||
| ENST00000682803.1:c.364C>T | ENSP00000507069.1:p.Arg122Cys | |
| ENST00000682829.1:n.3019C>T | ||
| ENST00000682917.1:n.1219C>T | ||
| ENST00000682986.1:n.5108C>T | ||
| ENST00000683015.1:c.1461C>T | ENSP00000506815.1:n.1461C>T | |
| ENST00000683632.1:n.5117C>T | ||
| ENST00000683932.1:n.6467C>T | ||
| ENST00000684284.1:n.3069C>T | ||
| ENST00000684466.1:n.1330C>T | ||
| ENST00000684644.1:n.5011C>T | ||
| ENST00000684761.1:n.1184C>T | ||
| ENST00000306090.12:c.595C>T | ENSP00000304472.12:p.Arg199Cys | |
| ENST00000354359.12:c.694C>T | ENSP00000346328.7:p.Arg232Cys | |
| ENST00000371085.8:c.691C>T MANE Select | ENSP00000360126.3:p.Arg231Cys | |
| ENST00000371100.9:c.2620C>T MANE Plus Clinical | ENSP00000360141.3:p.Arg874Cys | |
| ENST00000656419.1:c.220C>T | ENSP00000499614.1:p.Arg74Cys | |
| ENST00000657090.1:c.514C>T | ENSP00000499380.1:p.Arg172Cys | |
| ENST00000667293.1:c.562C>T | ENSP00000499293.1:p.Arg188Cys | |
| ENST00000265620.11:c.646C>T | ENSP00000265620.7:p.Arg216Cys | |
| ENST00000306090.11:c.94-215C>T | ENSP00000304472.11:n.94-215C>T | |
| ENST00000313949.11:c.*594C>T | ENSP00000323571.7:n.*594C>T | |
| ENST00000354359.11:c.694C>T | ENSP00000346328.7:p.Arg232Cys | |
| ENST00000371075.7:c.*597C>T MANE Plus Clinical | ENSP00000360115.3:n.*597C>T | |
| ENST00000371085.7:c.691C>T | ENSP00000360126.3:p.Arg231Cys | |
| ENST00000371095.7:c.649C>T | ENSP00000360136.3:p.Arg217Cys | |
| ENST00000371100.8:c.2620C>T | ENSP00000360141.3:p.Arg874Cys | |
| ENST00000371102.8:c.2578C>T | ENSP00000360143.4:p.Arg860Cys | |
| ENST00000464624.6:n.2907C>T | ||
| ENST00000467321.5:n.706C>T | ||
| ENST00000468895.5:n.560C>T | ||
| ENST00000470512.5:n.765C>T | ||
| ENST00000476196.5:n.984C>T | ||
| ENST00000476935.5:n.680C>T | ||
| ENST00000477931.5:n.806C>T | ||
| ENST00000479025.1:n.407C>T | ||
| ENST00000480232.5:n.710C>T | ||
| ENST00000480975.5:n.690C>T | ||
| ENST00000481039.5:n.608C>T | ||
| ENST00000487862.5:n.925C>T | ||
| ENST00000487981.5:n.525C>T | ||
| ENST00000488546.5:n.550C>T | ||
| ENST00000488652.5:n.781C>T | ||
| ENST00000492907.5:n.642C>T | ||
| ENST00000493958.5:n.310C>T | ||
| ENST00000494081.5:n.274-132C>T | ||
| ENST00000496934.5:n.1980C>T | ||
| NM_000516.4:c.691C>T | NP_000507.1:p.Arg231Cys | |
| NM_000516.5:c.691C>T | NP_000507.1:p.Arg231Cys | |
| NM_001077488.2:c.694C>T | NP_001070956.1:p.Arg232Cys | |
| NM_001077488.3:c.694C>T | NP_001070956.1:p.Arg232Cys | |
| NM_001077489.2:c.646C>T | NP_001070957.1:p.Arg216Cys | |
| NM_001077489.3:c.646C>T | NP_001070957.1:p.Arg216Cys | |
| NM_001077490.1:c.*552C>T | NP_001070958.1:n.*552C>T | |
| NM_001077490.2:c.*552C>T | NP_001070958.1:n.*552C>T | |
| NM_001309840.1:c.514C>T | NP_001296769.1:p.Arg172Cys | |
| NM_001309861.1:c.514C>T | NP_001296790.1:p.Arg172Cys | |
| NM_016592.2:c.*597C>T | NP_057676.1:n.*597C>T | |
| NM_016592.3:c.*597C>T | NP_057676.1:n.*597C>T | |
| NM_080425.2:c.2620C>T | NP_536350.2:p.Arg874Cys | |
| NM_080425.3:c.2620C>T | NP_536350.2:p.Arg874Cys | |
| NM_080426.2:c.649C>T | NP_536351.1:p.Arg217Cys | |
| NM_080426.3:c.649C>T | NP_536351.1:p.Arg217Cys | |
| NR_003259.1:c.-4294966515C>T | ||
| XM_017027812.2:c.2623C>T | XP_016883301.1:p.Arg875Cys | |
| XM_017027813.2:c.2578C>T | XP_016883302.1:p.Arg860Cys | |
| XM_017027814.2:c.2575C>T | XP_016883303.1:p.Arg859Cys | |
| XM_017027815.1:c.550C>T | XP_016883304.1:p.Arg184Cys | |
| XM_017027816.1:c.469C>T | XP_016883305.1:p.Arg157Cys | |
| XM_017027817.1:c.469C>T | XP_016883306.1:p.Arg157Cys | |
| XM_017027818.2:c.469C>T | XP_016883307.1:p.Arg157Cys | |
| XM_017027819.1:c.469C>T | XP_016883308.1:p.Arg157Cys | |
| XM_017027820.1:c.469C>T | XP_016883309.1:p.Arg157Cys | |
| XM_024451872.1:c.595C>T | XP_024307640.1:p.Arg199Cys | |
| XM_024451873.1:c.514C>T | XP_024307641.1:p.Arg172Cys | |
| XM_024451874.1:c.514C>T | XP_024307642.1:p.Arg172Cys | |
| XM_024451875.1:c.514C>T | XP_024307643.1:p.Arg172Cys | |
| XR_002958471.1:n.1398C>T | ||
| NM_000516.6:c.691C>T | NP_000507.1:p.Arg231Cys | |
| NM_001077488.4:c.694C>T | NP_001070956.1:p.Arg232Cys | |
| NM_001077489.4:c.646C>T | NP_001070957.1:p.Arg216Cys | |
| NM_001309840.2:c.514C>T | NP_001296769.1:p.Arg172Cys | |
| NM_001309861.2:c.514C>T | NP_001296790.1:p.Arg172Cys | |
| NM_016592.4:c.*597C>T | NP_057676.1:n.*597C>T | |
| NM_080426.4:c.649C>T | NP_536351.1:p.Arg217Cys | |
| NM_000516.7:c.691C>T MANE Select | NP_000507.1:p.Arg231Cys | |
| NM_001077488.5:c.694C>T | NP_001070956.1:p.Arg232Cys | |
| NM_001077490.3:c.*552C>T | NP_001070958.1:n.*552C>T | |
| NM_016592.5:c.*597C>T MANE Plus Clinical | NP_057676.1:n.*597C>T | |
| NM_080425.4:c.2620C>T MANE Plus Clinical | NP_536350.2:p.Arg874Cys |