Linked Data
ClinVar Variation Id:
1111614
ClinVar RCV Id:
RCV001438277
dbSNP Id:
rs760888818
MyVariant Identifiers:
chr20:g.43252963G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624322G>T , CM000682.2:g.44624322G>T | GRCh38 |
| NC_000020.10:g.43252963G>T , CM000682.1:g.43252963G>T | GRCh37 |
| NC_000020.9:g.42686377G>T | NCBI36 |
| NG_007385.1:g.32414C>A , LRG_16:g.32414C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.577C>A | ||
| ENST00000536076.2:c.333C>A | ENSP00000512234.1:p.Ser111= | |
| ENST00000536532.6:c.486C>A | ENSP00000440946.1:p.Ser162= | |
| ENST00000537820.2:c.486C>A | ENSP00000441818.1:p.Ser162= | |
| ENST00000539235.6:c.219-1244C>A | ENSP00000446464.1:n.219-1244C>A | |
| ENST00000695889.1:c.219-1392C>A | ENSP00000512240.1:n.219-1392C>A | |
| ENST00000695890.1:n.2289C>A | ||
| ENST00000695891.1:c.219-1392C>A | ENSP00000512241.1:n.219-1392C>A | |
| ENST00000695927.1:c.564C>A | ENSP00000512270.1:p.Ser188= | |
| ENST00000695949.1:c.483C>A | ENSP00000512281.1:p.Ser161= | |
| ENST00000695957.1:c.370C>A | ENSP00000512286.1:p.Pro124Thr | |
| ENST00000695991.1:c.217-1392C>A | ENSP00000512314.1:n.217-1392C>A | |
| ENST00000695992.1:c.486C>A | ENSP00000512315.1:p.Ser162= | |
| ENST00000695993.1:c.486C>A | ENSP00000512316.1:p.Ser162= | |
| ENST00000695994.1:c.486C>A | ENSP00000512317.1:p.Ser162= | |
| ENST00000695995.1:c.217-1244C>A | ENSP00000512318.1:n.217-1244C>A | |
| ENST00000695996.1:n.557C>A | ||
| ENST00000695997.1:n.441C>A | ||
| ENST00000696003.1:n.578C>A | ||
| ENST00000696004.1:n.578C>A | ||
| ENST00000696005.1:c.8C>A | ||
| ENST00000696006.1:c.486C>A | ENSP00000512325.1:p.Ser162= | |
| ENST00000696007.1:c.337C>A | ENSP00000512326.1:p.Pro113Thr | |
| ENST00000696008.1:n.1641C>A | ||
| ENST00000696009.1:n.1836C>A | ||
| ENST00000696017.1:c.483C>A | ENSP00000512333.1:p.Ser161= | |
| ENST00000696034.1:c.486C>A | ENSP00000512343.1:p.Ser162= | |
| ENST00000696035.1:n.596C>A | ||
| ENST00000696036.1:n.1176C>A | ||
| ENST00000696037.1:n.2163C>A | ||
| ENST00000696038.1:c.*232C>A | ENSP00000512344.1:n.*232C>A | |
| ENST00000696039.1:n.774C>A | ||
| ENST00000696058.1:c.486C>A | ENSP00000512361.1:p.Ser162= | |
| ENST00000696059.1:c.*431C>A | ENSP00000512362.1:n.*431C>A | |
| ENST00000696060.1:c.486C>A | ENSP00000512363.1:p.Ser162= | |
| ENST00000696061.1:c.483C>A | ENSP00000512364.1:p.Ser161= | |
| ENST00000696062.1:c.549C>A | ENSP00000512365.1:p.Ser183= | |
| ENST00000696063.1:c.561C>A | ENSP00000512366.1:p.Ser187= | |
| ENST00000696064.1:c.333C>A | ENSP00000512367.1:p.Ser111= | |
| ENST00000696065.1:c.66-1392C>A | ENSP00000512368.1:n.66-1392C>A | |
| ENST00000696074.1:n.102C>A | ||
| ENST00000696075.1:c.*456C>A | ENSP00000512374.1:n.*456C>A | |
| ENST00000696076.1:c.486C>A | ENSP00000512375.1:p.Ser162= | |
| ENST00000696077.1:c.483C>A | ENSP00000512376.1:p.Ser161= | |
| ENST00000696078.1:c.486C>A | ENSP00000512377.1:p.Ser162= | |
| ENST00000696079.1:c.486C>A | ENSP00000512378.1:p.Ser162= | |
| ENST00000696080.1:c.486C>A | ENSP00000512379.1:p.Ser162= | |
| ENST00000696081.1:n.605C>A | ||
| ENST00000696082.1:c.564C>A | ENSP00000512380.1:p.Ser188= | |
| ENST00000696083.1:n.1367C>A | ||
| ENST00000696084.1:n.587C>A | ||
| ENST00000696104.1:c.363-1392C>A | ENSP00000512399.1:n.363-1392C>A | |
| ENST00000696105.1:c.*27C>A | ENSP00000512400.1:n.*27C>A | |
| ENST00000372874.9:c.486C>A MANE Select | ENSP00000361965.4:p.Ser162= | |
| ENST00000372874.8:c.486C>A | ENSP00000361965.4:p.Ser162= | |
| ENST00000464097.5:n.160C>A | ||
| ENST00000492931.5:n.570C>A | ||
| ENST00000536532.5:c.486C>A | ENSP00000440946.1:p.Ser162= | |
| ENST00000537820.1:c.486C>A | ENSP00000441818.1:p.Ser162= | |
| ENST00000539235.5:c.219-1244C>A | ENSP00000446464.1:n.219-1244C>A | |
| NM_000022.2:c.486C>A , LRG_16t1:c.486C>A | NP_000013.2:p.Ser162= | |
| XM_005260236.2:c.486C>A | XP_005260293.1:p.Ser162= | |
| XM_011528478.1:c.81C>A | XP_011526780.1:p.Ser27= | |
| XM_011528479.1:c.81C>A | XP_011526781.1:p.Ser27= | |
| XR_244129.1:n.540C>A | ||
| NM_000022.3:c.486C>A | NP_000013.2:p.Ser162= | |
| NM_001322050.1:c.81C>A | NP_001308979.1:p.Ser27= | |
| NM_001322051.1:c.486C>A | NP_001308980.1:p.Ser162= | |
| NR_136160.1:n.637C>A | ||
| NM_000022.4:c.486C>A MANE Select | NP_000013.2:p.Ser162= | |
| NM_001322050.2:c.81C>A | NP_001308979.1:p.Ser27= | |
| NM_001322051.2:c.486C>A | NP_001308980.1:p.Ser162= | |
| NR_136160.2:n.578C>A |