Linked Data
dbSNP Id:
rs779346543
ExAC:
20:43252916 A / G
gnomAD v2:
20-43252916-A-G
gnomAD v4:
20-44624275-A-G
COSMIC:
COSM5954686
MyVariant Identifiers:
chr20:g.43252916A>G (hg19)
chr20:g.43252916_43252917delinsGC (hg19)
chr20:g.44624275A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624275A>G , CM000682.2:g.44624275A>G | GRCh38 |
| NC_000020.10:g.43252916A>G , CM000682.1:g.43252916A>G | GRCh37 |
| NC_000020.9:g.42686330A>G | NCBI36 |
| NG_007385.1:g.32461T>C , LRG_16:g.32461T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.624T>C | ||
| ENST00000536076.2:c.380T>C | ENSP00000512234.1:p.Val127Ala | |
| ENST00000536532.6:c.533T>C | ENSP00000440946.1:p.Val178Ala | |
| ENST00000537820.2:c.533T>C | ENSP00000441818.1:p.Val178Ala | |
| ENST00000539235.6:c.219-1197T>C | ENSP00000446464.1:n.219-1197T>C | |
| ENST00000695889.1:c.219-1345T>C | ENSP00000512240.1:n.219-1345T>C | |
| ENST00000695890.1:n.2336T>C | ||
| ENST00000695891.1:c.219-1345T>C | ENSP00000512241.1:n.219-1345T>C | |
| ENST00000695927.1:c.611T>C | ENSP00000512270.1:p.Val204Ala | |
| ENST00000695949.1:c.530T>C | ENSP00000512281.1:p.Val177Ala | |
| ENST00000695957.1:c.*24T>C | ENSP00000512286.1:n.*24T>C | |
| ENST00000695991.1:c.217-1345T>C | ENSP00000512314.1:n.217-1345T>C | |
| ENST00000695992.1:c.533T>C | ENSP00000512315.1:p.Val178Ala | |
| ENST00000695993.1:c.533T>C | ENSP00000512316.1:p.Val178Ala | |
| ENST00000695994.1:c.533T>C | ENSP00000512317.1:p.Val178Ala | |
| ENST00000695995.1:c.217-1197T>C | ENSP00000512318.1:n.217-1197T>C | |
| ENST00000695996.1:n.604T>C | ||
| ENST00000695997.1:n.488T>C | ||
| ENST00000696003.1:n.625T>C | ||
| ENST00000696004.1:n.625T>C | ||
| ENST00000696005.1:c.55T>C | ||
| ENST00000696006.1:c.533T>C | ENSP00000512325.1:p.Val178Ala | |
| ENST00000696007.1:c.384T>C | ENSP00000512326.1:n.384T>C | |
| ENST00000696008.1:n.1688T>C | ||
| ENST00000696009.1:n.1883T>C | ||
| ENST00000696017.1:c.530T>C | ENSP00000512333.1:p.Val177Ala | |
| ENST00000696034.1:c.533T>C | ENSP00000512343.1:p.Val178Ala | |
| ENST00000696035.1:n.643T>C | ||
| ENST00000696036.1:n.1223T>C | ||
| ENST00000696037.1:n.2210T>C | ||
| ENST00000696038.1:c.*279T>C | ENSP00000512344.1:n.*279T>C | |
| ENST00000696039.1:n.821T>C | ||
| ENST00000696058.1:c.533T>C | ENSP00000512361.1:p.Val178Ala | |
| ENST00000696059.1:c.*478T>C | ENSP00000512362.1:n.*478T>C | |
| ENST00000696060.1:c.533T>C | ENSP00000512363.1:p.Val178Ala | |
| ENST00000696061.1:c.530T>C | ENSP00000512364.1:p.Val177Ala | |
| ENST00000696062.1:c.596T>C | ENSP00000512365.1:p.Val199Ala | |
| ENST00000696063.1:c.608T>C | ENSP00000512366.1:p.Val203Ala | |
| ENST00000696064.1:c.380T>C | ENSP00000512367.1:p.Val127Ala | |
| ENST00000696065.1:c.66-1345T>C | ENSP00000512368.1:n.66-1345T>C | |
| ENST00000696074.1:n.149T>C | ||
| ENST00000696075.1:c.*503T>C | ENSP00000512374.1:n.*503T>C | |
| ENST00000696076.1:c.533T>C | ENSP00000512375.1:p.Val178Ala | |
| ENST00000696077.1:c.530T>C | ENSP00000512376.1:p.Val177Ala | |
| ENST00000696078.1:c.533T>C | ENSP00000512377.1:p.Val178Ala | |
| ENST00000696079.1:c.533T>C | ENSP00000512378.1:p.Val178Ala | |
| ENST00000696080.1:c.533T>C | ENSP00000512379.1:p.Val178Ala | |
| ENST00000696081.1:n.652T>C | ||
| ENST00000696082.1:c.611T>C | ENSP00000512380.1:p.Val204Ala | |
| ENST00000696083.1:n.1414T>C | ||
| ENST00000696084.1:n.634T>C | ||
| ENST00000696104.1:c.363-1345T>C | ENSP00000512399.1:n.363-1345T>C | |
| ENST00000696105.1:c.*74T>C | ENSP00000512400.1:n.*74T>C | |
| ENST00000372874.9:c.533T>C MANE Select | ENSP00000361965.4:p.Val178Ala | |
| ENST00000372874.8:c.533T>C | ENSP00000361965.4:p.Val178Ala | |
| ENST00000464097.5:n.207T>C | ||
| ENST00000492931.5:n.617T>C | ||
| ENST00000536532.5:c.533T>C | ENSP00000440946.1:p.Val178Ala | |
| ENST00000537820.1:c.533T>C | ENSP00000441818.1:p.Val178Ala | |
| ENST00000539235.5:c.219-1197T>C | ENSP00000446464.1:n.219-1197T>C | |
| NM_000022.2:c.533T>C , LRG_16t1:c.533T>C | NP_000013.2:p.Val178Ala | |
| XM_005260236.2:c.533T>C | XP_005260293.1:p.Val178Ala | |
| XM_011528478.1:c.128T>C | XP_011526780.1:p.Val43Ala | |
| XM_011528479.1:c.128T>C | XP_011526781.1:p.Val43Ala | |
| XR_244129.1:n.587T>C | ||
| NM_000022.3:c.533T>C | NP_000013.2:p.Val178Ala | |
| NM_001322050.1:c.128T>C | NP_001308979.1:p.Val43Ala | |
| NM_001322051.1:c.533T>C | NP_001308980.1:p.Val178Ala | |
| NR_136160.1:n.684T>C | ||
| NM_000022.4:c.533T>C MANE Select | NP_000013.2:p.Val178Ala | |
| NM_001322050.2:c.128T>C | NP_001308979.1:p.Val43Ala | |
| NM_001322051.2:c.533T>C | NP_001308980.1:p.Val178Ala | |
| NR_136160.2:n.625T>C |