Linked Data
ClinVar Variation Id:
434080
dbSNP Id:
rs201045221
ExAC:
20:43252833 C / T
gnomAD v2:
20-43252833-C-T
gnomAD v3:
20-44624192-C-T
gnomAD v4:
20-44624192-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624192C>T , CM000682.2:g.44624192C>T | GRCh38 |
| NC_000020.10:g.43252833C>T , CM000682.1:g.43252833C>T | GRCh37 |
| NC_000020.9:g.42686247C>T | NCBI36 |
| NG_007385.1:g.32544G>A , LRG_16:g.32544G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.697+10G>A (ADA) | ||
| ENST00000536076.2:c.453+10G>A (ADA) | ENSP00000512234.1:n.453+10G>A | |
| ENST00000536532.6:c.606+10G>A (ADA) | ENSP00000440946.1:n.606+10G>A | |
| ENST00000537820.2:c.606+10G>A (ADA) | ENSP00000441818.1:n.606+10G>A | |
| ENST00000539235.6:c.219-1114G>A (ADA) | ENSP00000446464.1:n.219-1114G>A | |
| ENST00000695889.1:c.219-1262G>A (ADA) | ENSP00000512240.1:n.219-1262G>A | |
| ENST00000695890.1:n.2409+10G>A (ADA) | ||
| ENST00000695891.1:c.219-1262G>A (ADA) | ENSP00000512241.1:n.219-1262G>A | |
| ENST00000695927.1:c.684+10G>A (ADA) | ENSP00000512270.1:n.684+10G>A | |
| ENST00000695949.1:c.603+10G>A (ADA) | ENSP00000512281.1:n.603+10G>A | |
| ENST00000695957.1:c.*97+10G>A (ADA) | ENSP00000512286.1:n.*97+10G>A | |
| ENST00000695991.1:c.217-1262G>A (ADA) | ENSP00000512314.1:n.217-1262G>A | |
| ENST00000695992.1:c.606+10G>A (ADA) | ENSP00000512315.1:n.606+10G>A | |
| ENST00000695993.1:c.606+10G>A (ADA) | ENSP00000512316.1:n.606+10G>A | |
| ENST00000695994.1:c.606+10G>A (ADA) | ENSP00000512317.1:n.606+10G>A | |
| ENST00000695995.1:c.217-1114G>A (ADA) | ENSP00000512318.1:n.217-1114G>A | |
| ENST00000695996.1:n.677+10G>A (ADA) | ||
| ENST00000695997.1:n.571G>A (ADA) | ||
| ENST00000696003.1:n.698+10G>A (ADA) | ||
| ENST00000696004.1:n.698+10G>A (ADA) | ||
| ENST00000696005.1:c.128+10G>A (ADA) | ||
| ENST00000696006.1:c.606+10G>A (ADA) | ENSP00000512325.1:n.606+10G>A | |
| ENST00000696007.1:c.457+10G>A (ADA) | ENSP00000512326.1:n.457+10G>A | |
| ENST00000696008.1:n.1771G>A (ADA) | ||
| ENST00000696009.1:n.1966G>A (ADA) | ||
| ENST00000696017.1:c.603+10G>A (ADA) | ENSP00000512333.1:n.603+10G>A | |
| ENST00000696034.1:c.606+10G>A (ADA) | ENSP00000512343.1:n.606+10G>A | |
| ENST00000696035.1:n.716+10G>A (ADA) | ||
| ENST00000696036.1:n.1296+10G>A (ADA) | ||
| ENST00000696037.1:n.2283+10G>A (ADA) | ||
| ENST00000696038.1:c.*352+10G>A (ADA) | ENSP00000512344.1:n.*352+10G>A | |
| ENST00000696039.1:n.894+10G>A (ADA) | ||
| ENST00000696058.1:c.606+10G>A (ADA) | ENSP00000512361.1:n.606+10G>A | |
| ENST00000696059.1:c.*551+10G>A (ADA) | ENSP00000512362.1:n.*551+10G>A | |
| ENST00000696060.1:c.606+10G>A (ADA) | ENSP00000512363.1:n.606+10G>A | |
| ENST00000696061.1:c.603+10G>A (ADA) | ENSP00000512364.1:n.603+10G>A | |
| ENST00000696062.1:c.669+10G>A (ADA) | ENSP00000512365.1:n.669+10G>A | |
| ENST00000696063.1:c.681+10G>A (ADA) | ENSP00000512366.1:n.681+10G>A | |
| ENST00000696064.1:c.453+10G>A (ADA) | ENSP00000512367.1:n.453+10G>A | |
| ENST00000696065.1:c.66-1262G>A (ADA) | ENSP00000512368.1:n.66-1262G>A | |
| ENST00000696074.1:n.222+10G>A (ADA) | ||
| ENST00000696075.1:c.*576+10G>A (ADA) | ENSP00000512374.1:n.*576+10G>A | |
| ENST00000696076.1:c.606+10G>A (ADA) | ENSP00000512375.1:n.606+10G>A | |
| ENST00000696077.1:c.603+10G>A (ADA) | ENSP00000512376.1:n.603+10G>A | |
| ENST00000696078.1:c.606+10G>A (ADA) | ENSP00000512377.1:n.606+10G>A | |
| ENST00000696079.1:c.606+10G>A (ADA) | ENSP00000512378.1:n.606+10G>A | |
| ENST00000696080.1:c.606+10G>A (ADA) | ENSP00000512379.1:n.606+10G>A | |
| ENST00000696081.1:n.725+10G>A (ADA) | ||
| ENST00000696082.1:c.684+10G>A (ADA) | ENSP00000512380.1:n.684+10G>A | |
| ENST00000696083.1:n.1487+10G>A (ADA) | ||
| ENST00000696084.1:n.707+10G>A (ADA) | ||
| ENST00000696104.1:c.363-1262G>A (ADA) | ENSP00000512399.1:n.363-1262G>A | |
| ENST00000696105.1:c.*147+10G>A (ADA) | ENSP00000512400.1:n.*147+10G>A | |
| ENST00000372874.9:c.606+10G>A (ADA) MANE Select | ENSP00000361965.4:n.606+10G>A | |
| ENST00000372874.8:c.606+10G>A (ADA) | ENSP00000361965.4:n.606+10G>A | |
| ENST00000372887.5:c.*216C>T (PKIG) | ENSP00000361978.1:n.*216C>T | |
| ENST00000464097.5:n.280+10G>A (ADA) | ||
| ENST00000492931.5:n.690+10G>A (ADA) | ||
| ENST00000536532.5:c.606+10G>A (ADA) | ENSP00000440946.1:n.606+10G>A | |
| ENST00000537820.1:c.606+10G>A (ADA) | ENSP00000441818.1:n.606+10G>A | |
| ENST00000539235.5:c.219-1114G>A (ADA) | ENSP00000446464.1:n.219-1114G>A | |
| NM_000022.2:c.606+10G>A , LRG_16t1:c.606+10G>A (ADA) | NP_000013.2:n.606+10G>A | |
| XM_005260236.2:c.606+10G>A (ADA) | XP_005260293.1:n.606+10G>A | |
| XM_011528478.1:c.201+10G>A (ADA) | XP_011526780.1:n.201+10G>A | |
| XM_011528479.1:c.201+10G>A (ADA) | XP_011526781.1:n.201+10G>A | |
| XR_244129.1:n.660+10G>A (ADA) | ||
| NM_000022.3:c.606+10G>A (ADA) | NP_000013.2:n.606+10G>A | |
| NM_001322050.1:c.201+10G>A (ADA) | NP_001308979.1:n.201+10G>A | |
| NM_001322051.1:c.606+10G>A (ADA) | NP_001308980.1:n.606+10G>A | |
| NR_136160.1:n.757+10G>A (ADA) | ||
| NM_000022.4:c.606+10G>A (ADA) MANE Select | NP_000013.2:n.606+10G>A | |
| NM_001322050.2:c.201+10G>A (ADA) | NP_001308979.1:n.201+10G>A | |
| NM_001322051.2:c.606+10G>A (ADA) | NP_001308980.1:n.606+10G>A | |
| NR_136160.2:n.698+10G>A (ADA) |