Linked Data
ClinVar Variation Id:
216937
ClinVar RCV Id:
RCV000196321
dbSNP Id:
rs863224876
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58909991C>T , CM000682.2:g.58909991C>T | GRCh38 |
| NC_000020.10:g.57485046C>T , CM000682.1:g.57485046C>T | GRCh37 |
| NC_000020.9:g.56918441C>T | NCBI36 |
| NG_016194.1:g.75252C>T | |
| NG_016194.2:g.75252C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2764C>T | ENSP00000265621.6:p.Gln922Ter | |
| ENST00000419558.7:c.*738C>T | ENSP00000416234.2:n.*738C>T | |
| ENST00000453292.7:c.1479C>T | ENSP00000392000.2:n.1479C>T | |
| ENST00000462499.6:c.661C>T | ENSP00000499758.2:p.Gln221Ter | |
| ENST00000464624.7:c.*722C>T | ENSP00000499607.2:n.*722C>T | |
| ENST00000464788.6:c.703C>T | ENSP00000499239.2:p.Gln235Ter | |
| ENST00000467227.6:c.661C>T | ENSP00000499681.2:p.Gln221Ter | |
| ENST00000467321.6:c.703C>T | ENSP00000499523.2:p.Gln235Ter | |
| ENST00000468895.6:c.880C>T | ENSP00000499551.2:p.Gln294Ter | |
| ENST00000469431.6:c.703C>T | ENSP00000499654.2:p.Gln235Ter | |
| ENST00000470512.6:c.706C>T | ENSP00000499552.2:p.Gln236Ter | |
| ENST00000472183.6:c.703C>T | ENSP00000499673.2:p.Gln235Ter | |
| ENST00000475610.2:n.1386C>T | ||
| ENST00000476935.6:c.658C>T | ENSP00000499409.2:p.Gln220Ter | |
| ENST00000478585.6:c.661C>T | ENSP00000499762.2:p.Gln221Ter | |
| ENST00000480232.6:c.706C>T | ENSP00000499545.2:p.Gln236Ter | |
| ENST00000481039.6:c.661C>T | ENSP00000499767.2:p.Gln221Ter | |
| ENST00000482112.6:c.658C>T | ENSP00000499794.2:p.Gln220Ter | |
| ENST00000485673.6:c.661C>T | ENSP00000499334.2:p.Gln221Ter | |
| ENST00000488546.6:c.661C>T | ENSP00000499332.2:p.Gln221Ter | |
| ENST00000488652.6:c.703C>T | ENSP00000499435.2:p.Gln235Ter | |
| ENST00000492907.6:c.661C>T | ENSP00000499443.2:p.Gln221Ter | |
| ENST00000603546.2:c.703C>T | ENSP00000474802.2:p.Gln235Ter | |
| ENST00000604005.6:c.703C>T | ENSP00000474219.2:p.Gln235Ter | |
| ENST00000663479.2:c.706C>T | ENSP00000499353.2:p.Gln236Ter | |
| ENST00000667293.2:c.703C>T | ENSP00000499293.2:p.Gln235Ter | |
| ENST00000676826.2:c.2812C>T | ENSP00000504675.2:p.Gln938Ter | |
| ENST00000682092.1:n.5164C>T | ||
| ENST00000682134.1:n.2806C>T | ||
| ENST00000682411.1:n.2975C>T | ||
| ENST00000682590.1:n.5067C>T | ||
| ENST00000682680.1:n.5081C>T | ||
| ENST00000682803.1:c.553C>T | ENSP00000507069.1:p.Gln185Ter | |
| ENST00000682829.1:n.3208C>T | ||
| ENST00000682917.1:n.1408C>T | ||
| ENST00000682986.1:n.5443C>T | ||
| ENST00000683015.1:c.1650C>T | ENSP00000506815.1:n.1650C>T | |
| ENST00000683632.1:n.5410C>T | ||
| ENST00000683932.1:n.6656C>T | ||
| ENST00000684284.1:n.3258C>T | ||
| ENST00000684466.1:n.1519C>T | ||
| ENST00000684644.1:n.5200C>T | ||
| ENST00000684761.1:n.1373C>T | ||
| ENST00000306090.12:c.784C>T | ENSP00000304472.12:p.Gln262Ter | |
| ENST00000354359.12:c.883C>T | ENSP00000346328.7:p.Gln295Ter | |
| ENST00000371085.8:c.880C>T MANE Select | ENSP00000360126.3:p.Gln294Ter | |
| ENST00000371100.9:c.2809C>T MANE Plus Clinical | ENSP00000360141.3:p.Gln937Ter | |
| ENST00000656419.1:c.409C>T | ENSP00000499614.1:p.Gln137Ter | |
| ENST00000657090.1:c.703C>T | ENSP00000499380.1:p.Gln235Ter | |
| ENST00000667293.1:c.751C>T | ENSP00000499293.1:p.Gln251Ter | |
| ENST00000265620.11:c.835C>T | ENSP00000265620.7:p.Gln279Ter | |
| ENST00000306090.11:c.172C>T | ENSP00000304472.11:p.Gln58Ter | |
| ENST00000313949.11:c.*783C>T | ENSP00000323571.7:n.*783C>T | |
| ENST00000354359.11:c.883C>T | ENSP00000346328.7:p.Gln295Ter | |
| ENST00000371075.7:c.*786C>T MANE Plus Clinical | ENSP00000360115.3:n.*786C>T | |
| ENST00000371085.7:c.880C>T | ENSP00000360126.3:p.Gln294Ter | |
| ENST00000371095.7:c.838C>T | ENSP00000360136.3:p.Gln280Ter | |
| ENST00000371100.8:c.2809C>T | ENSP00000360141.3:p.Gln937Ter | |
| ENST00000371102.8:c.2767C>T | ENSP00000360143.4:p.Gln923Ter | |
| ENST00000464624.6:n.3096C>T | ||
| ENST00000476196.5:n.1173C>T | ||
| ENST00000477931.5:n.995C>T | ||
| ENST00000480975.5:n.879C>T | ||
| ENST00000487862.5:n.1114C>T | ||
| ENST00000488546.5:n.739C>T | ||
| ENST00000494081.5:n.435C>T | ||
| ENST00000496934.5:n.2169C>T | ||
| NM_000516.4:c.880C>T | NP_000507.1:p.Gln294Ter | |
| NM_000516.5:c.880C>T | NP_000507.1:p.Gln294Ter | |
| NM_001077488.2:c.883C>T | NP_001070956.1:p.Gln295Ter | |
| NM_001077488.3:c.883C>T | NP_001070956.1:p.Gln295Ter | |
| NM_001077489.2:c.835C>T | NP_001070957.1:p.Gln279Ter | |
| NM_001077489.3:c.835C>T | NP_001070957.1:p.Gln279Ter | |
| NM_001077490.1:c.*741C>T | NP_001070958.1:n.*741C>T | |
| NM_001077490.2:c.*741C>T | NP_001070958.1:n.*741C>T | |
| NM_001309840.1:c.703C>T | NP_001296769.1:p.Gln235Ter | |
| NM_001309861.1:c.703C>T | NP_001296790.1:p.Gln235Ter | |
| NM_016592.2:c.*786C>T | NP_057676.1:n.*786C>T | |
| NM_016592.3:c.*786C>T | NP_057676.1:n.*786C>T | |
| NM_080425.2:c.2809C>T | NP_536350.2:p.Gln937Ter | |
| NM_080425.3:c.2809C>T | NP_536350.2:p.Gln937Ter | |
| NM_080426.2:c.838C>T | NP_536351.1:p.Gln280Ter | |
| NM_080426.3:c.838C>T | NP_536351.1:p.Gln280Ter | |
| NR_003259.1:c.-4294966326C>T | ||
| XM_017027812.2:c.2812C>T | XP_016883301.1:p.Gln938Ter | |
| XM_017027813.2:c.2767C>T | XP_016883302.1:p.Gln923Ter | |
| XM_017027814.2:c.2764C>T | XP_016883303.1:p.Gln922Ter | |
| XM_017027815.1:c.739C>T | XP_016883304.1:p.Gln247Ter | |
| XM_017027816.1:c.658C>T | XP_016883305.1:p.Gln220Ter | |
| XM_017027817.1:c.658C>T | XP_016883306.1:p.Gln220Ter | |
| XM_017027818.2:c.658C>T | XP_016883307.1:p.Gln220Ter | |
| XM_017027819.1:c.658C>T | XP_016883308.1:p.Gln220Ter | |
| XM_017027820.1:c.658C>T | XP_016883309.1:p.Gln220Ter | |
| XM_024451872.1:c.784C>T | XP_024307640.1:p.Gln262Ter | |
| XM_024451873.1:c.703C>T | XP_024307641.1:p.Gln235Ter | |
| XM_024451874.1:c.703C>T | XP_024307642.1:p.Gln235Ter | |
| XM_024451875.1:c.703C>T | XP_024307643.1:p.Gln235Ter | |
| XR_002958471.1:n.1587C>T | ||
| NM_000516.6:c.880C>T | NP_000507.1:p.Gln294Ter | |
| NM_001077488.4:c.883C>T | NP_001070956.1:p.Gln295Ter | |
| NM_001077489.4:c.835C>T | NP_001070957.1:p.Gln279Ter | |
| NM_001309840.2:c.703C>T | NP_001296769.1:p.Gln235Ter | |
| NM_001309861.2:c.703C>T | NP_001296790.1:p.Gln235Ter | |
| NM_016592.4:c.*786C>T | NP_057676.1:n.*786C>T | |
| NM_080426.4:c.838C>T | NP_536351.1:p.Gln280Ter | |
| NM_000516.7:c.880C>T MANE Select | NP_000507.1:p.Gln294Ter | |
| NM_001077488.5:c.883C>T | NP_001070956.1:p.Gln295Ter | |
| NM_001077490.3:c.*741C>T | NP_001070958.1:n.*741C>T | |
| NM_016592.5:c.*786C>T MANE Plus Clinical | NP_057676.1:n.*786C>T | |
| NM_080425.4:c.2809C>T MANE Plus Clinical | NP_536350.2:p.Gln937Ter |