Linked Data
ClinVar Variation Id:
1958
ClinVar RCV Id:
RCV000002035
dbSNP Id:
rs199422327
ExAC:
20:43249723 A / C
gnomAD v2:
20-43249723-A-C
gnomAD v3:
20-44621082-A-C
gnomAD v4:
20-44621082-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44621082A>C , CM000682.2:g.44621082A>C | GRCh38 |
| NC_000020.10:g.43249723A>C , CM000682.1:g.43249723A>C | GRCh37 |
| NC_000020.9:g.42683137A>C | NCBI36 |
| NG_007385.1:g.35654T>G , LRG_16:g.35654T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.1078T>G (ADA) | ||
| ENST00000536076.2:c.758T>G (ADA) | ENSP00000512234.1:p.Leu253Arg | |
| ENST00000536532.6:c.*54T>G (ADA) | ENSP00000440946.1:n.*54T>G | |
| ENST00000537820.2:c.839T>G (ADA) | ENSP00000441818.1:p.Leu280Arg | |
| ENST00000539235.6:c.*295T>G (ADA) | ENSP00000446464.1:n.*295T>G | |
| ENST00000695889.1:c.386T>G (ADA) | ENSP00000512240.1:p.Leu129Arg | |
| ENST00000695890.1:n.4406T>G (ADA) | ||
| ENST00000695891.1:c.451T>G (ADA) | ENSP00000512241.1:p.Trp151Gly | |
| ENST00000695927.1:c.989T>G (ADA) | ENSP00000512270.1:p.Leu330Arg | |
| ENST00000695949.1:c.836T>G (ADA) | ENSP00000512281.1:p.Leu279Arg | |
| ENST00000695956.1:c.66T>G (ADA) | ||
| ENST00000695957.1:c.*402T>G (ADA) | ENSP00000512286.1:n.*402T>G | |
| ENST00000695991.1:c.449T>G (ADA) | ENSP00000512314.1:p.Leu150Arg | |
| ENST00000695992.1:c.*54T>G (ADA) | ENSP00000512315.1:n.*54T>G | |
| ENST00000695993.1:c.911T>G (ADA) | ENSP00000512316.1:p.Leu304Arg | |
| ENST00000695994.1:c.*54T>G (ADA) | ENSP00000512317.1:n.*54T>G | |
| ENST00000695995.1:c.521T>G (ADA) | ENSP00000512318.1:p.Leu174Arg | |
| ENST00000695996.1:n.993T>G (ADA) | ||
| ENST00000696003.1:n.2695T>G (ADA) | ||
| ENST00000696004.1:n.1079T>G (ADA) | ||
| ENST00000696005.1:c.361T>G (ADA) | ||
| ENST00000696006.1:c.*54T>G (ADA) | ENSP00000512325.1:n.*54T>G | |
| ENST00000696007.1:c.838T>G (ADA) | ENSP00000512326.1:n.838T>G | |
| ENST00000696008.1:n.3265T>G (ADA) | ||
| ENST00000696017.1:c.908T>G (ADA) | ENSP00000512333.1:p.Leu303Arg | |
| ENST00000696034.1:c.*54T>G (ADA) | ENSP00000512343.1:n.*54T>G | |
| ENST00000696035.1:n.1097T>G (ADA) | ||
| ENST00000696036.1:n.1612T>G (ADA) | ||
| ENST00000696037.1:n.2588T>G (ADA) | ||
| ENST00000696038.1:c.*668T>G (ADA) | ENSP00000512344.1:n.*668T>G | |
| ENST00000696039.1:n.1275T>G (ADA) | ||
| ENST00000696058.1:c.908T>G (ADA) | ENSP00000512361.1:p.Leu303Arg | |
| ENST00000696059.1:c.*856T>G (ADA) | ENSP00000512362.1:n.*856T>G | |
| ENST00000696060.1:c.980T>G (ADA) | ENSP00000512363.1:p.Leu327Arg | |
| ENST00000696061.1:c.908T>G (ADA) | ENSP00000512364.1:p.Leu303Arg | |
| ENST00000696062.1:c.974T>G (ADA) | ENSP00000512365.1:p.Leu325Arg | |
| ENST00000696063.1:c.986T>G (ADA) | ENSP00000512366.1:p.Leu329Arg | |
| ENST00000696064.1:c.758T>G (ADA) | ENSP00000512367.1:p.Leu253Arg | |
| ENST00000696065.1:c.233T>G (ADA) | ENSP00000512368.1:p.Leu78Arg | |
| ENST00000696072.1:n.266T>G (ADA) | ||
| ENST00000696073.1:n.1222T>G (ADA) | ||
| ENST00000696074.1:n.462T>G (ADA) | ||
| ENST00000696075.1:c.*881T>G (ADA) | ENSP00000512374.1:n.*881T>G | |
| ENST00000696076.1:c.980T>G (ADA) | ENSP00000512375.1:p.Leu327Arg | |
| ENST00000696077.1:c.905T>G (ADA) | ENSP00000512376.1:p.Leu302Arg | |
| ENST00000696078.1:c.908T>G (ADA) | ENSP00000512377.1:p.Leu303Arg | |
| ENST00000696079.1:c.908T>G (ADA) | ENSP00000512378.1:p.Leu303Arg | |
| ENST00000696080.1:c.911T>G (ADA) | ENSP00000512379.1:p.Leu304Arg | |
| ENST00000696081.1:n.1030T>G (ADA) | ||
| ENST00000696082.1:c.986T>G (ADA) | ENSP00000512380.1:p.Leu329Arg | |
| ENST00000696083.1:n.1868T>G (ADA) | ||
| ENST00000696084.1:n.1088T>G (ADA) | ||
| ENST00000696104.1:c.595T>G (ADA) | ENSP00000512399.1:p.Trp199Gly | |
| ENST00000372874.9:c.911T>G (ADA) MANE Select | ENSP00000361965.4:p.Leu304Arg | |
| ENST00000372874.8:c.911T>G (ADA) | ENSP00000361965.4:p.Leu304Arg | |
| ENST00000372887.5:c.152-2851A>C (PKIG) | ENSP00000361978.1:n.152-2851A>C | |
| ENST00000464097.5:n.661T>G (ADA) | ||
| ENST00000492931.5:n.1071T>G (ADA) | ||
| ENST00000536532.5:c.*54T>G (ADA) | ENSP00000440946.1:n.*54T>G | |
| ENST00000537820.1:c.839T>G (ADA) | ENSP00000441818.1:p.Leu280Arg | |
| ENST00000539235.5:c.*295T>G (ADA) | ENSP00000446464.1:n.*295T>G | |
| NM_000022.2:c.911T>G , LRG_16t1:c.911T>G (ADA) | NP_000013.2:p.Leu304Arg | |
| XM_005260236.2:c.839T>G (ADA) | XP_005260293.1:p.Leu280Arg | |
| XM_011528478.1:c.506T>G (ADA) | XP_011526780.1:p.Leu169Arg | |
| XM_011528479.1:c.506T>G (ADA) | XP_011526781.1:p.Leu169Arg | |
| XR_244129.1:n.900T>G (ADA) | ||
| NM_000022.3:c.911T>G (ADA) | NP_000013.2:p.Leu304Arg | |
| NM_001322050.1:c.506T>G (ADA) | NP_001308979.1:p.Leu169Arg | |
| NM_001322051.1:c.839T>G (ADA) | NP_001308980.1:p.Leu280Arg | |
| NR_136160.1:n.997T>G (ADA) | ||
| NM_000022.4:c.911T>G (ADA) MANE Select | NP_000013.2:p.Leu304Arg | |
| NM_001322050.2:c.506T>G (ADA) | NP_001308979.1:p.Leu169Arg | |
| NM_001322051.2:c.839T>G (ADA) | NP_001308980.1:p.Leu280Arg | |
| NR_136160.2:n.938T>G (ADA) |