Linked Data
ClinVar Variation Id:
382795
ClinVar RCV Id:
RCV000417424
dbSNP Id:
rs1057521456
ERepo:
CA16608444/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624233C>T , CM000682.2:g.44624233C>T | GRCh38 |
| NC_000020.10:g.43252874C>T , CM000682.1:g.43252874C>T | GRCh37 |
| NC_000020.9:g.42686288C>T | NCBI36 |
| NG_007385.1:g.32503G>A , LRG_16:g.32503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.666G>A (ADA) | ||
| ENST00000536076.2:c.422G>A (ADA) | ENSP00000512234.1:p.Ser141Asn | |
| ENST00000536532.6:c.575G>A (ADA) | ENSP00000440946.1:p.Ser192Asn | |
| ENST00000537820.2:c.575G>A (ADA) | ENSP00000441818.1:p.Ser192Asn | |
| ENST00000539235.6:c.219-1155G>A (ADA) | ENSP00000446464.1:n.219-1155G>A | |
| ENST00000695889.1:c.219-1303G>A (ADA) | ENSP00000512240.1:n.219-1303G>A | |
| ENST00000695890.1:n.2378G>A (ADA) | ||
| ENST00000695891.1:c.219-1303G>A (ADA) | ENSP00000512241.1:n.219-1303G>A | |
| ENST00000695927.1:c.653G>A (ADA) | ENSP00000512270.1:p.Ser218Asn | |
| ENST00000695949.1:c.572G>A (ADA) | ENSP00000512281.1:p.Ser191Asn | |
| ENST00000695957.1:c.*66G>A (ADA) | ENSP00000512286.1:n.*66G>A | |
| ENST00000695991.1:c.217-1303G>A (ADA) | ENSP00000512314.1:n.217-1303G>A | |
| ENST00000695992.1:c.575G>A (ADA) | ENSP00000512315.1:p.Ser192Asn | |
| ENST00000695993.1:c.575G>A (ADA) | ENSP00000512316.1:p.Ser192Asn | |
| ENST00000695994.1:c.575G>A (ADA) | ENSP00000512317.1:p.Ser192Asn | |
| ENST00000695995.1:c.217-1155G>A (ADA) | ENSP00000512318.1:n.217-1155G>A | |
| ENST00000695996.1:n.646G>A (ADA) | ||
| ENST00000695997.1:n.530G>A (ADA) | ||
| ENST00000696003.1:n.667G>A (ADA) | ||
| ENST00000696004.1:n.667G>A (ADA) | ||
| ENST00000696005.1:c.97G>A (ADA) | ||
| ENST00000696006.1:c.575G>A (ADA) | ENSP00000512325.1:p.Ser192Asn | |
| ENST00000696007.1:c.426G>A (ADA) | ENSP00000512326.1:n.426G>A | |
| ENST00000696008.1:n.1730G>A (ADA) | ||
| ENST00000696009.1:n.1925G>A (ADA) | ||
| ENST00000696017.1:c.572G>A (ADA) | ENSP00000512333.1:p.Ser191Asn | |
| ENST00000696034.1:c.575G>A (ADA) | ENSP00000512343.1:p.Ser192Asn | |
| ENST00000696035.1:n.685G>A (ADA) | ||
| ENST00000696036.1:n.1265G>A (ADA) | ||
| ENST00000696037.1:n.2252G>A (ADA) | ||
| ENST00000696038.1:c.*321G>A (ADA) | ENSP00000512344.1:n.*321G>A | |
| ENST00000696039.1:n.863G>A (ADA) | ||
| ENST00000696058.1:c.575G>A (ADA) | ENSP00000512361.1:p.Ser192Asn | |
| ENST00000696059.1:c.*520G>A (ADA) | ENSP00000512362.1:n.*520G>A | |
| ENST00000696060.1:c.575G>A (ADA) | ENSP00000512363.1:p.Ser192Asn | |
| ENST00000696061.1:c.572G>A (ADA) | ENSP00000512364.1:p.Ser191Asn | |
| ENST00000696062.1:c.638G>A (ADA) | ENSP00000512365.1:p.Ser213Asn | |
| ENST00000696063.1:c.650G>A (ADA) | ENSP00000512366.1:p.Ser217Asn | |
| ENST00000696064.1:c.422G>A (ADA) | ENSP00000512367.1:p.Ser141Asn | |
| ENST00000696065.1:c.66-1303G>A (ADA) | ENSP00000512368.1:n.66-1303G>A | |
| ENST00000696074.1:n.191G>A (ADA) | ||
| ENST00000696075.1:c.*545G>A (ADA) | ENSP00000512374.1:n.*545G>A | |
| ENST00000696076.1:c.575G>A (ADA) | ENSP00000512375.1:p.Ser192Asn | |
| ENST00000696077.1:c.572G>A (ADA) | ENSP00000512376.1:p.Ser191Asn | |
| ENST00000696078.1:c.575G>A (ADA) | ENSP00000512377.1:p.Ser192Asn | |
| ENST00000696079.1:c.575G>A (ADA) | ENSP00000512378.1:p.Ser192Asn | |
| ENST00000696080.1:c.575G>A (ADA) | ENSP00000512379.1:p.Ser192Asn | |
| ENST00000696081.1:n.694G>A (ADA) | ||
| ENST00000696082.1:c.653G>A (ADA) | ENSP00000512380.1:p.Ser218Asn | |
| ENST00000696083.1:n.1456G>A (ADA) | ||
| ENST00000696084.1:n.676G>A (ADA) | ||
| ENST00000696104.1:c.363-1303G>A (ADA) | ENSP00000512399.1:n.363-1303G>A | |
| ENST00000696105.1:c.*116G>A (ADA) | ENSP00000512400.1:n.*116G>A | |
| ENST00000372874.9:c.575G>A (ADA) MANE Select | ENSP00000361965.4:p.Ser192Asn | |
| ENST00000372874.8:c.575G>A (ADA) | ENSP00000361965.4:p.Ser192Asn | |
| ENST00000372887.5:c.*257C>T (PKIG) | ENSP00000361978.1:n.*257C>T | |
| ENST00000464097.5:n.249G>A (ADA) | ||
| ENST00000492931.5:n.659G>A (ADA) | ||
| ENST00000536532.5:c.575G>A (ADA) | ENSP00000440946.1:p.Ser192Asn | |
| ENST00000537820.1:c.575G>A (ADA) | ENSP00000441818.1:p.Ser192Asn | |
| ENST00000539235.5:c.219-1155G>A (ADA) | ENSP00000446464.1:n.219-1155G>A | |
| NM_000022.2:c.575G>A , LRG_16t1:c.575G>A (ADA) | NP_000013.2:p.Ser192Asn | |
| XM_005260236.2:c.575G>A (ADA) | XP_005260293.1:p.Ser192Asn | |
| XM_011528478.1:c.170G>A (ADA) | XP_011526780.1:p.Ser57Asn | |
| XM_011528479.1:c.170G>A (ADA) | XP_011526781.1:p.Ser57Asn | |
| XR_244129.1:n.629G>A (ADA) | ||
| NM_000022.3:c.575G>A (ADA) | NP_000013.2:p.Ser192Asn | |
| NM_001322050.1:c.170G>A (ADA) | NP_001308979.1:p.Ser57Asn | |
| NM_001322051.1:c.575G>A (ADA) | NP_001308980.1:p.Ser192Asn | |
| NR_136160.1:n.726G>A (ADA) | ||
| NM_000022.4:c.575G>A (ADA) MANE Select | NP_000013.2:p.Ser192Asn | |
| NM_001322050.2:c.170G>A (ADA) | NP_001308979.1:p.Ser57Asn | |
| NM_001322051.2:c.575G>A (ADA) | NP_001308980.1:p.Ser192Asn | |
| NR_136160.2:n.667G>A (ADA) |