Linked Data
ClinVar Variation Id:
1673793
ClinVar RCV Id:
RCV002206192
dbSNP Id:
rs373146145
gnomAD v3:
20-44621008-A-G
gnomAD v4:
20-44621008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44621008A>G , CM000682.2:g.44621008A>G | GRCh38 |
| NC_000020.10:g.43249649A>G , CM000682.1:g.43249649A>G | GRCh37 |
| NC_000020.9:g.42683063A>G | NCBI36 |
| NG_007385.1:g.35728T>C , LRG_16:g.35728T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1142+10T>C (ADA) | ||
| ENST00000536076.2:c.822+10T>C (ADA) | ENSP00000512234.1:n.822+10T>C | |
| ENST00000536532.6:c.*118+10T>C (ADA) | ENSP00000440946.1:n.*118+10T>C | |
| ENST00000537820.2:c.903+10T>C (ADA) | ENSP00000441818.1:n.903+10T>C | |
| ENST00000539235.6:c.*359+10T>C (ADA) | ENSP00000446464.1:n.*359+10T>C | |
| ENST00000695889.1:c.450+10T>C (ADA) | ENSP00000512240.1:n.450+10T>C | |
| ENST00000695890.1:n.4480T>C (ADA) | ||
| ENST00000695891.1:c.515+10T>C (ADA) | ENSP00000512241.1:n.515+10T>C | |
| ENST00000695927.1:c.1053+10T>C (ADA) | ENSP00000512270.1:n.1053+10T>C | |
| ENST00000695949.1:c.900+10T>C (ADA) | ENSP00000512281.1:n.900+10T>C | |
| ENST00000695956.1:c.130+10T>C (ADA) | ||
| ENST00000695957.1:c.*466+10T>C (ADA) | ENSP00000512286.1:n.*466+10T>C | |
| ENST00000695991.1:c.513+10T>C (ADA) | ENSP00000512314.1:n.513+10T>C | |
| ENST00000695992.1:c.*118+10T>C (ADA) | ENSP00000512315.1:n.*118+10T>C | |
| ENST00000695993.1:c.975+10T>C (ADA) | ENSP00000512316.1:n.975+10T>C | |
| ENST00000695994.1:c.*118+10T>C (ADA) | ENSP00000512317.1:n.*118+10T>C | |
| ENST00000695995.1:c.585+10T>C (ADA) | ENSP00000512318.1:n.585+10T>C | |
| ENST00000695996.1:n.1057+10T>C (ADA) | ||
| ENST00000696003.1:n.2759+10T>C (ADA) | ||
| ENST00000696004.1:n.1153T>C (ADA) | ||
| ENST00000696005.1:c.425+10T>C (ADA) | ||
| ENST00000696006.1:c.*118+10T>C (ADA) | ENSP00000512325.1:n.*118+10T>C | |
| ENST00000696007.1:c.902+10T>C (ADA) | ENSP00000512326.1:n.902+10T>C | |
| ENST00000696008.1:n.3329+10T>C (ADA) | ||
| ENST00000696017.1:c.972+10T>C (ADA) | ENSP00000512333.1:n.972+10T>C | |
| ENST00000696034.1:c.*118+10T>C (ADA) | ENSP00000512343.1:n.*118+10T>C | |
| ENST00000696035.1:n.1161+10T>C (ADA) | ||
| ENST00000696036.1:n.1676+10T>C (ADA) | ||
| ENST00000696037.1:n.2652+10T>C (ADA) | ||
| ENST00000696038.1:c.*732+10T>C (ADA) | ENSP00000512344.1:n.*732+10T>C | |
| ENST00000696039.1:n.1339+10T>C (ADA) | ||
| ENST00000696058.1:c.972+10T>C (ADA) | ENSP00000512361.1:n.972+10T>C | |
| ENST00000696059.1:c.*920+10T>C (ADA) | ENSP00000512362.1:n.*920+10T>C | |
| ENST00000696060.1:c.1044+10T>C (ADA) | ENSP00000512363.1:n.1044+10T>C | |
| ENST00000696061.1:c.972+10T>C (ADA) | ENSP00000512364.1:n.972+10T>C | |
| ENST00000696062.1:c.1038+10T>C (ADA) | ENSP00000512365.1:n.1038+10T>C | |
| ENST00000696063.1:c.1050+10T>C (ADA) | ENSP00000512366.1:n.1050+10T>C | |
| ENST00000696064.1:c.822+10T>C (ADA) | ENSP00000512367.1:n.822+10T>C | |
| ENST00000696065.1:c.297+10T>C (ADA) | ENSP00000512368.1:n.297+10T>C | |
| ENST00000696072.1:n.330+10T>C (ADA) | ||
| ENST00000696073.1:n.1286+10T>C (ADA) | ||
| ENST00000696074.1:n.526+10T>C (ADA) | ||
| ENST00000696075.1:c.*945+10T>C (ADA) | ENSP00000512374.1:n.*945+10T>C | |
| ENST00000696076.1:c.1044+10T>C (ADA) | ENSP00000512375.1:n.1044+10T>C | |
| ENST00000696077.1:c.969+10T>C (ADA) | ENSP00000512376.1:n.969+10T>C | |
| ENST00000696078.1:c.972+10T>C (ADA) | ENSP00000512377.1:n.972+10T>C | |
| ENST00000696079.1:c.972+10T>C (ADA) | ENSP00000512378.1:n.972+10T>C | |
| ENST00000696080.1:c.975+10T>C (ADA) | ENSP00000512379.1:n.975+10T>C | |
| ENST00000696081.1:n.1094+10T>C (ADA) | ||
| ENST00000696082.1:c.1050+10T>C (ADA) | ENSP00000512380.1:n.1050+10T>C | |
| ENST00000696083.1:n.1932+10T>C (ADA) | ||
| ENST00000696084.1:n.1152+10T>C (ADA) | ||
| ENST00000696104.1:c.*44+10T>C (ADA) | ENSP00000512399.1:n.*44+10T>C | |
| ENST00000372874.9:c.975+10T>C (ADA) MANE Select | ENSP00000361965.4:n.975+10T>C | |
| ENST00000372874.8:c.975+10T>C (ADA) | ENSP00000361965.4:n.975+10T>C | |
| ENST00000372887.5:c.152-2925A>G (PKIG) | ENSP00000361978.1:n.152-2925A>G | |
| ENST00000464097.5:n.735T>C (ADA) | ||
| ENST00000492931.5:n.1135+10T>C (ADA) | ||
| ENST00000536532.5:c.*118+10T>C (ADA) | ENSP00000440946.1:n.*118+10T>C | |
| ENST00000537820.1:c.903+10T>C (ADA) | ENSP00000441818.1:n.903+10T>C | |
| ENST00000539235.5:c.*359+10T>C (ADA) | ENSP00000446464.1:n.*359+10T>C | |
| NM_000022.2:c.975+10T>C , LRG_16t1:c.975+10T>C (ADA) | NP_000013.2:n.975+10T>C | |
| XM_005260236.2:c.903+10T>C (ADA) | XP_005260293.1:n.903+10T>C | |
| XM_011528478.1:c.570+10T>C (ADA) | XP_011526780.1:n.570+10T>C | |
| XM_011528479.1:c.570+10T>C (ADA) | XP_011526781.1:n.570+10T>C | |
| XR_244129.1:n.964+10T>C (ADA) | ||
| NM_000022.3:c.975+10T>C (ADA) | NP_000013.2:n.975+10T>C | |
| NM_001322050.1:c.570+10T>C (ADA) | NP_001308979.1:n.570+10T>C | |
| NM_001322051.1:c.903+10T>C (ADA) | NP_001308980.1:n.903+10T>C | |
| NR_136160.1:n.1061+10T>C (ADA) | ||
| NM_000022.4:c.975+10T>C (ADA) MANE Select | NP_000013.2:n.975+10T>C | |
| NM_001322050.2:c.570+10T>C (ADA) | NP_001308979.1:n.570+10T>C | |
| NM_001322051.2:c.903+10T>C (ADA) | NP_001308980.1:n.903+10T>C | |
| NR_136160.2:n.1002+10T>C (ADA) |