Linked Data
ClinVar Variation Id:
474456
dbSNP Id:
rs80158178
ExAC:
20:44047974 G / A
gnomAD v2:
20-44047974-G-A
gnomAD v3:
20-45419334-G-A
gnomAD v4:
20-45419334-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45419334G>A , CM000682.2:g.45419334G>A | GRCh38 |
| NC_000020.10:g.44047974G>A , CM000682.1:g.44047974G>A | GRCh37 |
| NC_000020.9:g.43481388G>A | NCBI36 |
| NG_047154.1:g.8268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424705.3:c.533G>A | ENSP00000491856.2:p.Arg178Gln | |
| ENST00000638691.2:c.533G>A | ENSP00000492094.2:p.Arg178Gln | |
| ENST00000639292.2:c.533G>A | ENSP00000491678.2:p.Arg178Gln | |
| ENST00000640549.2:c.533G>A | ENSP00000492043.2:p.Arg178Gln | |
| ENST00000689203.1:c.533G>A | ENSP00000508682.1:p.Arg178Gln | |
| ENST00000692236.1:c.533G>A | ENSP00000509421.1:p.Arg178Gln | |
| ENST00000279035.14:c.227G>A | ENSP00000279035.8:p.Arg76Gln | |
| ENST00000279036.12:c.533G>A MANE Select | ENSP00000279036.6:p.Arg178Gln | |
| ENST00000432270.2:c.227G>A | ENSP00000408354.2:p.Arg76Gln | |
| ENST00000543458.7:c.365G>A | ENSP00000441577.1:p.Arg122Gln | |
| ENST00000545755.3:c.188-998G>A | ENSP00000443963.3:n.188-998G>A | |
| ENST00000638246.1:c.*33G>A | ENSP00000492883.1:n.*33G>A | |
| ENST00000638353.1:c.316-170G>A | ENSP00000491538.1:n.316-170G>A | |
| ENST00000638383.1:c.533G>A | ENSP00000492295.1:p.Arg178Gln | |
| ENST00000638387.1:c.533G>A | ENSP00000492873.1:p.Arg178Gln | |
| ENST00000638415.1:c.70G>A | ||
| ENST00000638445.1:c.493G>A | ENSP00000491297.1:p.Gly165Arg | |
| ENST00000638478.1:c.494-174G>A | ENSP00000491233.1:n.494-174G>A | |
| ENST00000638489.1:c.503G>A | ENSP00000491566.1:p.Arg168Gln | |
| ENST00000638537.1:n.322G>A | ||
| ENST00000638594.1:c.533G>A | ENSP00000491697.1:p.Arg178Gln | |
| ENST00000638612.1:c.533G>A | ENSP00000491458.1:p.Arg178Gln | |
| ENST00000638671.1:c.355G>A | ENSP00000492875.1:p.Gly119Arg | |
| ENST00000638689.1:n.2720G>A | ||
| ENST00000638710.1:c.739G>A | ENSP00000491406.1:n.739G>A | |
| ENST00000638714.1:c.366-170G>A | ENSP00000491194.1:n.366-170G>A | |
| ENST00000638745.1:c.355G>A | ENSP00000491744.1:p.Gly119Arg | |
| ENST00000638938.1:c.*190G>A | ENSP00000491171.1:n.*190G>A | |
| ENST00000638953.1:c.*190G>A | ENSP00000492848.1:n.*190G>A | |
| ENST00000638962.1:n.493G>A | ||
| ENST00000638978.1:c.533G>A | ENSP00000492743.1:p.Arg178Gln | |
| ENST00000639194.1:c.279G>A | ENSP00000492210.1:n.279G>A | |
| ENST00000639235.1:c.422G>A | ENSP00000492498.1:p.Arg141Gln | |
| ENST00000639250.1:n.1094G>A | ||
| ENST00000639286.1:c.227G>A | ENSP00000492507.1:p.Arg76Gln | |
| ENST00000639292.1:c.312G>A | ||
| ENST00000639382.1:c.454-170G>A | ENSP00000491534.1:n.454-170G>A | |
| ENST00000639417.1:c.366-998G>A | ENSP00000491058.1:n.366-998G>A | |
| ENST00000639499.1:c.533G>A | ENSP00000491170.1:p.Arg178Gln | |
| ENST00000639664.1:n.260G>A | ||
| ENST00000639783.1:c.494-170G>A | ENSP00000491772.1:n.494-170G>A | |
| ENST00000639932.1:c.533G>A | ENSP00000491600.1:p.Arg178Gln | |
| ENST00000639984.1:c.355G>A | ENSP00000492727.1:p.Gly119Arg | |
| ENST00000640107.1:c.533G>A | ENSP00000491118.1:p.Arg178Gln | |
| ENST00000640108.1:c.*222G>A | ENSP00000492007.1:n.*222G>A | |
| ENST00000640175.1:c.188-170G>A | ENSP00000492418.1:n.188-170G>A | |
| ENST00000640194.1:c.*33G>A | ENSP00000492279.1:n.*33G>A | |
| ENST00000640210.1:c.188-174G>A | ENSP00000491164.1:n.188-174G>A | |
| ENST00000640272.1:c.533G>A | ENSP00000492270.1:p.Arg178Gln | |
| ENST00000640324.1:c.539G>A | ENSP00000491074.1:p.Arg180Gln | |
| ENST00000640364.1:n.567G>A | ||
| ENST00000640542.1:c.533G>A | ENSP00000492174.1:p.Arg178Gln | |
| ENST00000640549.1:c.23G>A | ENSP00000492043.1:p.Arg8Gln | |
| ENST00000640585.1:c.*190G>A | ENSP00000491308.1:n.*190G>A | |
| ENST00000640666.1:c.533G>A | ENSP00000491072.1:p.Arg178Gln | |
| ENST00000640692.1:c.533G>A | ENSP00000492370.1:p.Arg178Gln | |
| ENST00000640940.1:n.195G>A | ||
| ENST00000640986.1:c.533G>A | ENSP00000491886.1:p.Arg178Gln | |
| ENST00000640996.1:c.*190G>A | ENSP00000492464.1:n.*190G>A | |
| ENST00000279035.13:c.227G>A | ENSP00000279035.8:p.Arg76Gln | |
| ENST00000279036.10:c.533G>A | ENSP00000279036.6:p.Arg178Gln | |
| ENST00000372689.9:c.533G>A | ENSP00000361774.4:p.Arg178Gln | |
| ENST00000432270.1:c.162-998G>A | ||
| ENST00000455050.2:c.*33G>A | ENSP00000407574.2:n.*33G>A | |
| ENST00000543458.6:c.365G>A | ENSP00000441577.1:p.Arg122Gln | |
| NM_001184728.2:c.365G>A | NP_001171657.1:p.Arg122Gln | |
| NM_001184729.2:c.533G>A | NP_001171658.1:p.Arg178Gln | |
| NM_001184730.2:c.227G>A | NP_001171659.1:p.Arg76Gln | |
| NM_015937.5:c.533G>A | NP_057021.2:p.Arg178Gln | |
| NR_047691.1:n.583G>A | ||
| NR_047692.1:n.495G>A | ||
| NR_047693.1:n.584-170G>A | ||
| NR_047694.1:n.445G>A | ||
| NR_047695.1:n.278-170G>A | ||
| XM_005260430.2:c.227G>A | XP_005260487.1:p.Arg76Gln | |
| XM_005260432.1:c.-254G>A | XP_005260489.1:n.-254G>A | |
| XM_005260432.3:c.-254G>A | XP_005260489.1:n.-254G>A | |
| XR_001754286.2:n.549G>A | ||
| XR_001754287.2:n.549G>A | ||
| NM_015937.6:c.533G>A MANE Select | NP_057021.2:p.Arg178Gln | |
| NM_001184728.3:c.365G>A | NP_001171657.1:p.Arg122Gln | |
| NM_001184729.3:c.533G>A | NP_001171658.1:p.Arg178Gln | |
| NM_001184730.3:c.227G>A | NP_001171659.1:p.Arg76Gln | |
| NR_047691.2:n.509G>A | ||
| NR_047692.2:n.421G>A | ||
| NR_047693.2:n.510-170G>A | ||
| NR_047694.2:n.371G>A | ||
| NR_047695.2:n.204-170G>A |