Linked Data
ClinVar Variation Id:
134475
dbSNP Id:
rs11554266
ExAC:
20:57478846 C / T
gnomAD v2:
20-57478846-C-T
gnomAD v3:
20-58903791-C-T
gnomAD v4:
20-58903791-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58903791C>T , CM000682.2:g.58903791C>T | GRCh38 |
| NC_000020.10:g.57478846C>T , CM000682.1:g.57478846C>T | GRCh37 |
| NC_000020.9:g.56912241C>T | NCBI36 |
| NG_016194.1:g.69052C>T | |
| NG_016194.2:g.69052C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2316C>T | ENSP00000265621.6:p.Pro772= | |
| ENST00000419558.7:c.*290C>T | ENSP00000416234.2:n.*290C>T | |
| ENST00000453292.7:c.1031C>T | ENSP00000392000.2:n.1031C>T | |
| ENST00000462499.6:c.213C>T | ENSP00000499758.2:p.Pro71= | |
| ENST00000464624.7:c.*274C>T | ENSP00000499607.2:n.*274C>T | |
| ENST00000464788.6:c.255C>T | ENSP00000499239.2:p.Pro85= | |
| ENST00000467227.6:c.213C>T | ENSP00000499681.2:p.Pro71= | |
| ENST00000467321.6:c.255C>T | ENSP00000499523.2:p.Pro85= | |
| ENST00000468895.6:c.432C>T | ENSP00000499551.2:p.Pro144= | |
| ENST00000469431.6:c.255C>T | ENSP00000499654.2:p.Pro85= | |
| ENST00000470512.6:c.258C>T | ENSP00000499552.2:p.Pro86= | |
| ENST00000472183.6:c.255C>T | ENSP00000499673.2:p.Pro85= | |
| ENST00000475610.2:n.938C>T | ||
| ENST00000476935.6:c.210C>T | ENSP00000499409.2:p.Pro70= | |
| ENST00000478585.6:c.213C>T | ENSP00000499762.2:p.Pro71= | |
| ENST00000480232.6:c.258C>T | ENSP00000499545.2:p.Pro86= | |
| ENST00000481039.6:c.213C>T | ENSP00000499767.2:p.Pro71= | |
| ENST00000482112.6:c.210C>T | ENSP00000499794.2:p.Pro70= | |
| ENST00000485673.6:c.213C>T | ENSP00000499334.2:p.Pro71= | |
| ENST00000488546.6:c.213C>T | ENSP00000499332.2:p.Pro71= | |
| ENST00000488652.6:c.255C>T | ENSP00000499435.2:p.Pro85= | |
| ENST00000492907.6:c.213C>T | ENSP00000499443.2:p.Pro71= | |
| ENST00000603546.2:c.255C>T | ENSP00000474802.2:p.Pro85= | |
| ENST00000604005.6:c.255C>T | ENSP00000474219.2:p.Pro85= | |
| ENST00000663479.2:c.258C>T | ENSP00000499353.2:p.Pro86= | |
| ENST00000667293.2:c.255C>T | ENSP00000499293.2:p.Pro85= | |
| ENST00000676826.2:c.2364C>T | ENSP00000504675.2:p.Pro788= | |
| ENST00000682092.1:n.938C>T | ||
| ENST00000682134.1:n.2358C>T | ||
| ENST00000682411.1:n.936C>T | ||
| ENST00000682590.1:n.938C>T | ||
| ENST00000682680.1:n.952C>T | ||
| ENST00000682803.1:c.105C>T | ENSP00000507069.1:p.Pro35= | |
| ENST00000682829.1:n.2760C>T | ||
| ENST00000682917.1:n.960C>T | ||
| ENST00000682986.1:n.938C>T | ||
| ENST00000683015.1:c.1202C>T | ENSP00000506815.1:n.1202C>T | |
| ENST00000683632.1:n.947C>T | ||
| ENST00000683932.1:n.936C>T | ||
| ENST00000684284.1:n.2810C>T | ||
| ENST00000684466.1:n.938C>T | ||
| ENST00000684644.1:n.938C>T | ||
| ENST00000684761.1:n.938C>T | ||
| ENST00000306090.12:c.336C>T | ENSP00000304472.12:p.Pro112= | |
| ENST00000349036.8:c.2316C>T | ENSP00000265621.5:p.Pro772= | |
| ENST00000354359.12:c.435C>T | ENSP00000346328.7:p.Pro145= | |
| ENST00000371085.8:c.432C>T MANE Select | ENSP00000360126.3:p.Pro144= | |
| ENST00000371100.9:c.2361C>T MANE Plus Clinical | ENSP00000360141.3:p.Pro787= | |
| ENST00000419558.6:c.*290C>T | ENSP00000416234.2:n.*290C>T | |
| ENST00000490374.6:n.597C>T | ||
| ENST00000657090.1:c.255C>T | ENSP00000499380.1:p.Pro85= | |
| ENST00000663479.1:c.258C>T | ENSP00000499353.1:p.Pro86= | |
| ENST00000667293.1:c.303C>T | ENSP00000499293.1:p.Pro101= | |
| ENST00000676826.1:c.2364C>T | ENSP00000504675.1:p.Pro788= | |
| ENST00000265620.11:c.387C>T | ENSP00000265620.7:p.Pro129= | |
| ENST00000306090.11:c.94-5976C>T | ENSP00000304472.11:n.94-5976C>T | |
| ENST00000313949.11:c.*335C>T | ENSP00000323571.7:n.*335C>T | |
| ENST00000349036.7:c.483C>T | ENSP00000265621.4:p.Pro161= | |
| ENST00000354359.11:c.435C>T | ENSP00000346328.7:p.Pro145= | |
| ENST00000371075.7:c.*338C>T MANE Plus Clinical | ENSP00000360115.3:n.*338C>T | |
| ENST00000371085.7:c.432C>T | ENSP00000360126.3:p.Pro144= | |
| ENST00000371095.7:c.390C>T | ENSP00000360136.3:p.Pro130= | |
| ENST00000371100.8:c.2361C>T | ENSP00000360141.3:p.Pro787= | |
| ENST00000371102.8:c.2319C>T | ENSP00000360143.4:p.Pro773= | |
| ENST00000419558.5:c.631C>T | ||
| ENST00000450130.5:c.475C>T | ||
| ENST00000464624.6:n.2648C>T | ||
| ENST00000464788.5:n.360C>T | ||
| ENST00000467227.5:n.373C>T | ||
| ENST00000467321.5:n.447C>T | ||
| ENST00000468895.5:n.301C>T | ||
| ENST00000469431.5:n.549C>T | ||
| ENST00000470512.5:n.506C>T | ||
| ENST00000472183.5:n.684C>T | ||
| ENST00000476196.5:n.725C>T | ||
| ENST00000476935.5:n.421C>T | ||
| ENST00000477931.5:n.547C>T | ||
| ENST00000478585.5:n.445C>T | ||
| ENST00000480232.5:n.451C>T | ||
| ENST00000480975.5:n.431C>T | ||
| ENST00000481039.5:n.349C>T | ||
| ENST00000482112.5:n.506C>T | ||
| ENST00000485673.5:n.677C>T | ||
| ENST00000487862.5:n.666C>T | ||
| ENST00000487981.5:n.169C>T | ||
| ENST00000488546.5:n.291C>T | ||
| ENST00000488652.5:n.522C>T | ||
| ENST00000490374.5:n.550C>T | ||
| ENST00000492907.5:n.383C>T | ||
| ENST00000493958.5:n.51C>T | ||
| ENST00000494081.5:n.175C>T | ||
| ENST00000496934.5:n.1721C>T | ||
| ENST00000603546.1:c.255C>T | ENSP00000474802.1:p.Pro85= | |
| ENST00000604005.5:c.255C>T | ENSP00000474219.1:p.Pro85= | |
| NM_000516.4:c.432C>T | NP_000507.1:p.Pro144= | |
| NM_000516.5:c.432C>T | NP_000507.1:p.Pro144= | |
| NM_001077488.2:c.435C>T | NP_001070956.1:p.Pro145= | |
| NM_001077488.3:c.435C>T | NP_001070956.1:p.Pro145= | |
| NM_001077489.2:c.387C>T | NP_001070957.1:p.Pro129= | |
| NM_001077489.3:c.387C>T | NP_001070957.1:p.Pro129= | |
| NM_001077490.1:c.*293C>T | NP_001070958.1:n.*293C>T | |
| NM_001077490.2:c.*293C>T | NP_001070958.1:n.*293C>T | |
| NM_001309840.1:c.255C>T | NP_001296769.1:p.Pro85= | |
| NM_001309861.1:c.255C>T | NP_001296790.1:p.Pro85= | |
| NM_016592.2:c.*338C>T | NP_057676.1:n.*338C>T | |
| NM_016592.3:c.*338C>T | NP_057676.1:n.*338C>T | |
| NM_080425.2:c.2361C>T | NP_536350.2:p.Pro787= | |
| NM_080425.3:c.2361C>T | NP_536350.2:p.Pro787= | |
| NM_080426.2:c.390C>T | NP_536351.1:p.Pro130= | |
| NM_080426.3:c.390C>T | NP_536351.1:p.Pro130= | |
| NR_003259.1:c.-4294966774C>T | ||
| XM_017027812.2:c.2364C>T | XP_016883301.1:p.Pro788= | |
| XM_017027813.2:c.2319C>T | XP_016883302.1:p.Pro773= | |
| XM_017027814.2:c.2316C>T | XP_016883303.1:p.Pro772= | |
| XM_017027815.1:c.291C>T | XP_016883304.1:p.Pro97= | |
| XM_017027816.1:c.210C>T | XP_016883305.1:p.Pro70= | |
| XM_017027817.1:c.210C>T | XP_016883306.1:p.Pro70= | |
| XM_017027818.2:c.210C>T | XP_016883307.1:p.Pro70= | |
| XM_017027819.1:c.210C>T | XP_016883308.1:p.Pro70= | |
| XM_017027820.1:c.210C>T | XP_016883309.1:p.Pro70= | |
| XM_017027821.1:c.*335C>T | XP_016883310.1:n.*335C>T | |
| XM_024451872.1:c.336C>T | XP_024307640.1:p.Pro112= | |
| XM_024451873.1:c.255C>T | XP_024307641.1:p.Pro85= | |
| XM_024451874.1:c.255C>T | XP_024307642.1:p.Pro85= | |
| XM_024451875.1:c.255C>T | XP_024307643.1:p.Pro85= | |
| XR_002958471.1:n.1139C>T | ||
| NM_000516.6:c.432C>T | NP_000507.1:p.Pro144= | |
| NM_001077488.4:c.435C>T | NP_001070956.1:p.Pro145= | |
| NM_001077489.4:c.387C>T | NP_001070957.1:p.Pro129= | |
| NM_001309840.2:c.255C>T | NP_001296769.1:p.Pro85= | |
| NM_001309861.2:c.255C>T | NP_001296790.1:p.Pro85= | |
| NM_016592.4:c.*338C>T | NP_057676.1:n.*338C>T | |
| NM_080426.4:c.390C>T | NP_536351.1:p.Pro130= | |
| NM_000516.7:c.432C>T MANE Select | NP_000507.1:p.Pro144= | |
| NM_001077488.5:c.435C>T | NP_001070956.1:p.Pro145= | |
| NM_001077490.3:c.*293C>T | NP_001070958.1:n.*293C>T | |
| NM_016592.5:c.*338C>T MANE Plus Clinical | NP_057676.1:n.*338C>T | |
| NM_080425.4:c.2361C>T MANE Plus Clinical | NP_536350.2:p.Pro787= |