Linked Data
ClinVar Variation Id:
440973
dbSNP Id:
rs771157170
ExAC:
20:44054311 G / A
gnomAD v2:
20-44054311-G-A
gnomAD v3:
20-45425671-G-A
gnomAD v4:
20-45425671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45425671G>A , CM000682.2:g.45425671G>A | GRCh38 |
| NC_000020.10:g.44054311G>A , CM000682.1:g.44054311G>A | GRCh37 |
| NC_000020.9:g.43487725G>A | NCBI36 |
| NG_047154.1:g.14605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424705.3:c.1484+1092G>A | ENSP00000491856.2:n.1484+1092G>A | |
| ENST00000638691.2:c.1498G>A | ENSP00000492094.2:p.Val500Met | |
| ENST00000639292.2:c.1663G>A | ENSP00000491678.2:p.Val555Met | |
| ENST00000640549.2:c.1484+1092G>A | ENSP00000492043.2:n.1484+1092G>A | |
| ENST00000687237.1:n.888G>A | ||
| ENST00000689203.1:c.1484+1092G>A | ENSP00000508682.1:n.1484+1092G>A | |
| ENST00000690879.1:n.876+1290G>A | ||
| ENST00000692236.1:c.1484+1092G>A | ENSP00000509421.1:n.1484+1092G>A | |
| ENST00000279035.14:c.1276G>A | ENSP00000279035.8:p.Val426Met | |
| ENST00000279036.12:c.1582G>A MANE Select | ENSP00000279036.6:p.Val528Met | |
| ENST00000424705.2:c.220+1092G>A | ||
| ENST00000543458.7:c.1414G>A | ENSP00000441577.1:p.Val472Met | |
| ENST00000545755.3:c.1000G>A | ENSP00000443963.3:p.Val334Met | |
| ENST00000638241.1:n.1460G>A | ||
| ENST00000638246.1:c.*1082G>A | ENSP00000492883.1:n.*1082G>A | |
| ENST00000638277.1:c.418+1092G>A | ||
| ENST00000638383.1:c.*931G>A | ENSP00000492295.1:n.*931G>A | |
| ENST00000638387.1:c.*626G>A | ENSP00000492873.1:n.*626G>A | |
| ENST00000638415.1:c.1021+1092G>A | ||
| ENST00000638445.1:c.*966G>A | ENSP00000491297.1:n.*966G>A | |
| ENST00000638537.1:n.1371G>A | ||
| ENST00000638594.1:c.1484+1092G>A | ENSP00000491697.1:n.1484+1092G>A | |
| ENST00000638612.1:c.1484+1092G>A | ENSP00000491458.1:n.1484+1092G>A | |
| ENST00000638671.1:c.*966G>A | ENSP00000492875.1:n.*966G>A | |
| ENST00000638689.1:n.3789G>A | ||
| ENST00000638691.1:c.255G>A | ||
| ENST00000638710.1:c.1788G>A | ENSP00000491406.1:n.1788G>A | |
| ENST00000638714.1:c.*966G>A | ENSP00000491194.1:n.*966G>A | |
| ENST00000638745.1:c.*868+1092G>A | ENSP00000491744.1:n.*868+1092G>A | |
| ENST00000638927.1:c.626+1092G>A | ENSP00000492335.1:n.626+1092G>A | |
| ENST00000638938.1:c.*1038G>A | ENSP00000491171.1:n.*1038G>A | |
| ENST00000638962.1:n.1542G>A | ||
| ENST00000638978.1:c.*242G>A | ENSP00000492743.1:n.*242G>A | |
| ENST00000639250.1:n.2832G>A | ||
| ENST00000639292.1:c.1442G>A | ||
| ENST00000639664.1:n.1309G>A | ||
| ENST00000639783.1:c.*884G>A | ENSP00000491772.1:n.*884G>A | |
| ENST00000639872.1:n.1151G>A | ||
| ENST00000639932.1:c.*884G>A | ENSP00000491600.1:n.*884G>A | |
| ENST00000639984.1:c.*884G>A | ENSP00000492727.1:n.*884G>A | |
| ENST00000640107.1:c.*842G>A | ENSP00000491118.1:n.*842G>A | |
| ENST00000640108.1:c.*1271G>A | ENSP00000492007.1:n.*1271G>A | |
| ENST00000640123.1:c.329G>A | ||
| ENST00000640175.1:c.*884G>A | ENSP00000492418.1:n.*884G>A | |
| ENST00000640194.1:c.*901G>A | ENSP00000492279.1:n.*901G>A | |
| ENST00000640210.1:c.1171G>A | ENSP00000491164.1:p.Val391Met | |
| ENST00000640253.1:n.910G>A | ||
| ENST00000640272.1:c.*966G>A | ENSP00000492270.1:n.*966G>A | |
| ENST00000640324.1:c.1588G>A | ENSP00000491074.1:p.Val530Met | |
| ENST00000640364.1:n.2305G>A | ||
| ENST00000640542.1:c.1283+1092G>A | ENSP00000492174.1:n.1283+1092G>A | |
| ENST00000640549.1:c.974+1092G>A | ENSP00000492043.1:n.974+1092G>A | |
| ENST00000640585.1:c.*1239G>A | ENSP00000491308.1:n.*1239G>A | |
| ENST00000640666.1:c.1484+1092G>A | ENSP00000491072.1:n.1484+1092G>A | |
| ENST00000640692.1:c.*498G>A | ENSP00000492370.1:n.*498G>A | |
| ENST00000640940.1:n.1244G>A | ||
| ENST00000640986.1:c.*699G>A | ENSP00000491886.1:n.*699G>A | |
| ENST00000640996.1:c.*1259G>A | ENSP00000492464.1:n.*1259G>A | |
| ENST00000279035.13:c.1276G>A | ENSP00000279035.8:p.Val426Met | |
| ENST00000279036.10:c.1582G>A | ENSP00000279036.6:p.Val528Met | |
| ENST00000372689.9:c.1381G>A | ENSP00000361774.4:p.Val461Met | |
| ENST00000455050.2:c.*1113G>A | ENSP00000407574.2:n.*1113G>A | |
| ENST00000543458.6:c.1414G>A | ENSP00000441577.1:p.Val472Met | |
| NM_001184728.2:c.1414G>A | NP_001171657.1:p.Val472Met | |
| NM_001184729.2:c.1381G>A | NP_001171658.1:p.Val461Met | |
| NM_001184730.2:c.1276G>A | NP_001171659.1:p.Val426Met | |
| NM_015937.5:c.1582G>A | NP_057021.2:p.Val528Met | |
| NR_047691.1:n.1632G>A | ||
| NR_047692.1:n.1575G>A | ||
| NR_047693.1:n.1571G>A | ||
| NR_047694.1:n.1494G>A | ||
| NR_047695.1:n.1265G>A | ||
| XM_005260430.2:c.1075G>A | XP_005260487.1:p.Val359Met | |
| XM_005260432.1:c.796G>A | XP_005260489.1:p.Val266Met | |
| XM_005260432.3:c.796G>A | XP_005260489.1:p.Val266Met | |
| XR_001754286.2:n.1618G>A | ||
| XR_001754287.2:n.1417G>A | ||
| NM_015937.6:c.1582G>A MANE Select | NP_057021.2:p.Val528Met | |
| NM_001184728.3:c.1414G>A | NP_001171657.1:p.Val472Met | |
| NM_001184729.3:c.1381G>A | NP_001171658.1:p.Val461Met | |
| NM_001184730.3:c.1276G>A | NP_001171659.1:p.Val426Met | |
| NR_047691.2:n.1558G>A | ||
| NR_047692.2:n.1501G>A | ||
| NR_047693.2:n.1497G>A | ||
| NR_047694.2:n.1420G>A | ||
| NR_047695.2:n.1191G>A |