Linked Data
ClinVar Variation Id:
1080098
ClinVar RCV Id:
RCV001395603
dbSNP Id:
rs752992685
ExAC:
20:43248933 A / G
gnomAD v2:
20-43248933-A-G
gnomAD v3:
20-44620292-A-G
gnomAD v4:
20-44620292-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44620292A>G , CM000682.2:g.44620292A>G | GRCh38 |
| NC_000020.10:g.43248933A>G , CM000682.1:g.43248933A>G | GRCh37 |
| NC_000020.9:g.42682347A>G | NCBI36 |
| NG_007385.1:g.36444T>C , LRG_16:g.36444T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1245+7T>C (ADA) | ||
| ENST00000536076.2:c.925+7T>C (ADA) | ENSP00000512234.1:n.925+7T>C | |
| ENST00000536532.6:c.*221+7T>C (ADA) | ENSP00000440946.1:n.*221+7T>C | |
| ENST00000537820.2:c.1006+7T>C (ADA) | ENSP00000441818.1:n.1006+7T>C | |
| ENST00000539235.6:c.*462+7T>C (ADA) | ENSP00000446464.1:n.*462+7T>C | |
| ENST00000695889.1:c.553+7T>C (ADA) | ENSP00000512240.1:n.553+7T>C | |
| ENST00000695890.1:n.5196T>C (ADA) | ||
| ENST00000695891.1:c.618+7T>C (ADA) | ENSP00000512241.1:n.618+7T>C | |
| ENST00000695927.1:c.1156+7T>C (ADA) | ENSP00000512270.1:n.1156+7T>C | |
| ENST00000695949.1:c.1003+7T>C (ADA) | ENSP00000512281.1:n.1003+7T>C | |
| ENST00000695956.1:c.233+7T>C (ADA) | ||
| ENST00000695957.1:c.*569+7T>C (ADA) | ENSP00000512286.1:n.*569+7T>C | |
| ENST00000695991.1:c.616+7T>C (ADA) | ENSP00000512314.1:n.616+7T>C | |
| ENST00000695992.1:c.*228T>C (ADA) | ENSP00000512315.1:n.*228T>C | |
| ENST00000695993.1:c.1078+7T>C (ADA) | ENSP00000512316.1:n.1078+7T>C | |
| ENST00000695994.1:c.*221+7T>C (ADA) | ENSP00000512317.1:n.*221+7T>C | |
| ENST00000695995.1:c.688+7T>C (ADA) | ENSP00000512318.1:n.688+7T>C | |
| ENST00000695996.1:n.1160+7T>C (ADA) | ||
| ENST00000696003.1:n.2862+7T>C (ADA) | ||
| ENST00000696004.1:n.1869T>C (ADA) | ||
| ENST00000696005.1:c.535T>C (ADA) | ||
| ENST00000696006.1:c.*221+7T>C (ADA) | ENSP00000512325.1:n.*221+7T>C | |
| ENST00000696007.1:c.1005+7T>C (ADA) | ENSP00000512326.1:n.1005+7T>C | |
| ENST00000696008.1:n.3439T>C (ADA) | ||
| ENST00000696017.1:c.1082T>C (ADA) | ENSP00000512333.1:p.Phe361Ser | |
| ENST00000696034.1:c.*221+7T>C (ADA) | ENSP00000512343.1:n.*221+7T>C | |
| ENST00000696035.1:n.1271T>C (ADA) | ||
| ENST00000696036.1:n.1786T>C (ADA) | ||
| ENST00000696037.1:n.2755+7T>C (ADA) | ||
| ENST00000696038.1:c.*842T>C (ADA) | ENSP00000512344.1:n.*842T>C | |
| ENST00000696039.1:n.1442+7T>C (ADA) | ||
| ENST00000696058.1:c.1075+7T>C (ADA) | ENSP00000512361.1:n.1075+7T>C | |
| ENST00000696059.1:c.*1023+7T>C (ADA) | ENSP00000512362.1:n.*1023+7T>C | |
| ENST00000696060.1:c.1147+7T>C (ADA) | ENSP00000512363.1:n.1147+7T>C | |
| ENST00000696061.1:c.1075+7T>C (ADA) | ENSP00000512364.1:n.1075+7T>C | |
| ENST00000696062.1:c.1141+7T>C (ADA) | ENSP00000512365.1:n.1141+7T>C | |
| ENST00000696063.1:c.1153+7T>C (ADA) | ENSP00000512366.1:n.1153+7T>C | |
| ENST00000696064.1:c.925+7T>C (ADA) | ENSP00000512367.1:n.925+7T>C | |
| ENST00000696065.1:c.400+7T>C (ADA) | ENSP00000512368.1:n.400+7T>C | |
| ENST00000696072.1:n.440T>C (ADA) | ||
| ENST00000696073.1:n.1389+7T>C (ADA) | ||
| ENST00000696074.1:n.629+7T>C (ADA) | ||
| ENST00000696075.1:c.*1048+7T>C (ADA) | ENSP00000512374.1:n.*1048+7T>C | |
| ENST00000696076.1:c.1154T>C (ADA) | ENSP00000512375.1:p.Phe385Ser | |
| ENST00000696077.1:c.1072+7T>C (ADA) | ENSP00000512376.1:n.1072+7T>C | |
| ENST00000696078.1:c.1075+7T>C (ADA) | ENSP00000512377.1:n.1075+7T>C | |
| ENST00000696079.1:c.1075+7T>C (ADA) | ENSP00000512378.1:n.1075+7T>C | |
| ENST00000696080.1:c.1078+7T>C (ADA) | ENSP00000512379.1:n.1078+7T>C | |
| ENST00000696081.1:n.1204T>C (ADA) | ||
| ENST00000696082.1:c.1153+7T>C (ADA) | ENSP00000512380.1:n.1153+7T>C | |
| ENST00000696083.1:n.2035+7T>C (ADA) | ||
| ENST00000696084.1:n.1262T>C (ADA) | ||
| ENST00000696104.1:c.*147+7T>C (ADA) | ENSP00000512399.1:n.*147+7T>C | |
| ENST00000372874.9:c.1078+7T>C (ADA) MANE Select | ENSP00000361965.4:n.1078+7T>C | |
| ENST00000372874.8:c.1078+7T>C (ADA) | ENSP00000361965.4:n.1078+7T>C | |
| ENST00000372887.5:c.152-3641A>G (PKIG) | ENSP00000361978.1:n.152-3641A>G | |
| ENST00000464097.5:n.1444+7T>C (ADA) | ||
| ENST00000492931.5:n.1238+7T>C (ADA) | ||
| ENST00000536532.5:c.*221+7T>C (ADA) | ENSP00000440946.1:n.*221+7T>C | |
| ENST00000537820.1:c.1006+7T>C (ADA) | ENSP00000441818.1:n.1006+7T>C | |
| ENST00000539235.5:c.*462+7T>C (ADA) | ENSP00000446464.1:n.*462+7T>C | |
| NM_000022.2:c.1078+7T>C , LRG_16t1:c.1078+7T>C (ADA) | NP_000013.2:n.1078+7T>C | |
| XM_005260236.2:c.1006+7T>C (ADA) | XP_005260293.1:n.1006+7T>C | |
| XM_011528478.1:c.673+7T>C (ADA) | XP_011526780.1:n.673+7T>C | |
| XM_011528479.1:c.673+7T>C (ADA) | XP_011526781.1:n.673+7T>C | |
| XR_244129.1:n.1067+7T>C (ADA) | ||
| NM_000022.3:c.1078+7T>C (ADA) | NP_000013.2:n.1078+7T>C | |
| NM_001322050.1:c.673+7T>C (ADA) | NP_001308979.1:n.673+7T>C | |
| NM_001322051.1:c.1006+7T>C (ADA) | NP_001308980.1:n.1006+7T>C | |
| NR_136160.1:n.1164+7T>C (ADA) | ||
| NM_000022.4:c.1078+7T>C (ADA) MANE Select | NP_000013.2:n.1078+7T>C | |
| NM_001322050.2:c.673+7T>C (ADA) | NP_001308979.1:n.673+7T>C | |
| NM_001322051.2:c.1006+7T>C (ADA) | NP_001308980.1:n.1006+7T>C | |
| NR_136160.2:n.1105+7T>C (ADA) |