Linked Data
ClinVar Variation Id:
3014384
ClinVar RCV Id:
RCV003876023
dbSNP Id:
rs543345924
ExAC:
20:43255128 T / C
gnomAD v2:
20-43255128-T-C
gnomAD v3:
20-44626487-T-C
gnomAD v4:
20-44626487-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44626487T>C , CM000682.2:g.44626487T>C | GRCh38 |
| NC_000020.10:g.43255128T>C , CM000682.1:g.43255128T>C | GRCh37 |
| NC_000020.9:g.42688542T>C | NCBI36 |
| NG_007385.1:g.30249A>G , LRG_16:g.30249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.422A>G | ||
| ENST00000536076.2:c.178A>G | ENSP00000512234.1:p.Lys60Glu | |
| ENST00000536532.6:c.331A>G | ENSP00000440946.1:p.Lys111Glu | |
| ENST00000537820.2:c.331A>G | ENSP00000441818.1:p.Lys111Glu | |
| ENST00000539235.6:c.218+2560A>G | ENSP00000446464.1:n.218+2560A>G | |
| ENST00000695889.1:c.218+2560A>G | ENSP00000512240.1:n.218+2560A>G | |
| ENST00000695890.1:n.2134A>G | ||
| ENST00000695891.1:c.218+2560A>G | ENSP00000512241.1:n.218+2560A>G | |
| ENST00000695927.1:c.409A>G | ENSP00000512270.1:p.Lys137Glu | |
| ENST00000695949.1:c.328A>G | ENSP00000512281.1:p.Lys110Glu | |
| ENST00000695957.1:c.331A>G | ENSP00000512286.1:p.Lys111Glu | |
| ENST00000695991.1:c.216+2562A>G | ENSP00000512314.1:n.216+2562A>G | |
| ENST00000695992.1:c.331A>G | ENSP00000512315.1:p.Lys111Glu | |
| ENST00000695993.1:c.331A>G | ENSP00000512316.1:p.Lys111Glu | |
| ENST00000695994.1:c.331A>G | ENSP00000512317.1:p.Lys111Glu | |
| ENST00000695995.1:c.216+2562A>G | ENSP00000512318.1:n.216+2562A>G | |
| ENST00000695996.1:n.402A>G | ||
| ENST00000695997.1:n.402A>G | ||
| ENST00000696003.1:n.423A>G | ||
| ENST00000696004.1:n.423A>G | ||
| ENST00000696006.1:c.331A>G | ENSP00000512325.1:p.Lys111Glu | |
| ENST00000696007.1:c.298A>G | ENSP00000512326.1:p.Lys100Glu | |
| ENST00000696009.1:n.442A>G | ||
| ENST00000696017.1:c.328A>G | ENSP00000512333.1:p.Lys110Glu | |
| ENST00000696034.1:c.331A>G | ENSP00000512343.1:p.Lys111Glu | |
| ENST00000696035.1:n.441A>G | ||
| ENST00000696036.1:n.1021A>G | ||
| ENST00000696037.1:n.2008A>G | ||
| ENST00000696038.1:c.*77A>G | ENSP00000512344.1:n.*77A>G | |
| ENST00000696039.1:n.619A>G | ||
| ENST00000696058.1:c.331A>G | ENSP00000512361.1:p.Lys111Glu | |
| ENST00000696059.1:c.*276A>G | ENSP00000512362.1:n.*276A>G | |
| ENST00000696060.1:c.331A>G | ENSP00000512363.1:p.Lys111Glu | |
| ENST00000696061.1:c.328A>G | ENSP00000512364.1:p.Lys110Glu | |
| ENST00000696062.1:c.394A>G | ENSP00000512365.1:p.Lys132Glu | |
| ENST00000696063.1:c.406A>G | ENSP00000512366.1:p.Lys136Glu | |
| ENST00000696064.1:c.178A>G | ENSP00000512367.1:p.Lys60Glu | |
| ENST00000696065.1:c.65+2560A>G | ENSP00000512368.1:n.65+2560A>G | |
| ENST00000696075.1:c.*301A>G | ENSP00000512374.1:n.*301A>G | |
| ENST00000696076.1:c.331A>G | ENSP00000512375.1:p.Lys111Glu | |
| ENST00000696077.1:c.328A>G | ENSP00000512376.1:p.Lys110Glu | |
| ENST00000696078.1:c.331A>G | ENSP00000512377.1:p.Lys111Glu | |
| ENST00000696079.1:c.331A>G | ENSP00000512378.1:p.Lys111Glu | |
| ENST00000696080.1:c.331A>G | ENSP00000512379.1:p.Lys111Glu | |
| ENST00000696082.1:c.409A>G | ENSP00000512380.1:p.Lys137Glu | |
| ENST00000696084.1:n.432A>G | ||
| ENST00000696104.1:c.331A>G | ENSP00000512399.1:p.Lys111Glu | |
| ENST00000696105.1:c.331A>G | ENSP00000512400.1:p.Lys111Glu | |
| ENST00000372874.9:c.331A>G MANE Select | ENSP00000361965.4:p.Lys111Glu | |
| ENST00000372874.8:c.331A>G | ENSP00000361965.4:p.Lys111Glu | |
| ENST00000464097.5:n.5A>G | ||
| ENST00000492931.5:n.415A>G | ||
| ENST00000536532.5:c.331A>G | ENSP00000440946.1:p.Lys111Glu | |
| ENST00000537820.1:c.331A>G | ENSP00000441818.1:p.Lys111Glu | |
| ENST00000539235.5:c.218+2560A>G | ENSP00000446464.1:n.218+2560A>G | |
| ENST00000545776.5:n.385A>G | ||
| NM_000022.2:c.331A>G , LRG_16t1:c.331A>G | NP_000013.2:p.Lys111Glu | |
| XM_005260236.2:c.331A>G | XP_005260293.1:p.Lys111Glu | |
| XM_011528478.1:c.42A>G | XP_011526780.1:p.Pro14= | |
| XM_011528479.1:c.42A>G | XP_011526781.1:p.Pro14= | |
| XR_244129.1:n.385A>G | ||
| NM_000022.3:c.331A>G | NP_000013.2:p.Lys111Glu | |
| NM_001322050.1:c.42A>G | NP_001308979.1:p.Pro14= | |
| NM_001322051.1:c.331A>G | NP_001308980.1:p.Lys111Glu | |
| NR_136160.1:n.482A>G | ||
| NM_000022.4:c.331A>G MANE Select | NP_000013.2:p.Lys111Glu | |
| NM_001322050.2:c.42A>G | NP_001308979.1:p.Pro14= | |
| NM_001322051.2:c.331A>G | NP_001308980.1:p.Lys111Glu | |
| NR_136160.2:n.423A>G |