Linked Data
ClinVar Variation Id:
967164
ClinVar RCV Id:
RCV001242000
dbSNP Id:
rs761846813
ExAC:
20:43251704 C / T
gnomAD v2:
20-43251704-C-T
gnomAD v3:
20-44623063-C-T
gnomAD v4:
20-44623063-C-T
ERepo:
CA9871582/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44623063C>T , CM000682.2:g.44623063C>T | GRCh38 |
| NC_000020.10:g.43251704C>T , CM000682.1:g.43251704C>T | GRCh37 |
| NC_000020.9:g.42685118C>T | NCBI36 |
| NG_007385.1:g.33673G>A , LRG_16:g.33673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.713G>A (ADA) | ||
| ENST00000536076.2:c.469G>A (ADA) | ENSP00000512234.1:p.Gly157Ser | |
| ENST00000536532.6:c.622G>A (ADA) | ENSP00000440946.1:p.Gly208Ser | |
| ENST00000537820.2:c.607-133G>A (ADA) | ENSP00000441818.1:n.607-133G>A | |
| ENST00000539235.6:c.*6G>A (ADA) | ENSP00000446464.1:n.*6G>A | |
| ENST00000695889.1:c.219-133G>A (ADA) | ENSP00000512240.1:n.219-133G>A | |
| ENST00000695890.1:n.2425G>A (ADA) | ||
| ENST00000695891.1:c.219-133G>A (ADA) | ENSP00000512241.1:n.219-133G>A | |
| ENST00000695927.1:c.700G>A (ADA) | ENSP00000512270.1:p.Gly234Ser | |
| ENST00000695949.1:c.604-133G>A (ADA) | ENSP00000512281.1:n.604-133G>A | |
| ENST00000695957.1:c.*113G>A (ADA) | ENSP00000512286.1:n.*113G>A | |
| ENST00000695991.1:c.217-133G>A (ADA) | ENSP00000512314.1:n.217-133G>A | |
| ENST00000695992.1:c.622G>A (ADA) | ENSP00000512315.1:p.Gly208Ser | |
| ENST00000695993.1:c.622G>A (ADA) | ENSP00000512316.1:p.Gly208Ser | |
| ENST00000695994.1:c.622G>A (ADA) | ENSP00000512317.1:p.Gly208Ser | |
| ENST00000695995.1:c.232G>A (ADA) | ENSP00000512318.1:p.Gly78Ser | |
| ENST00000695996.1:n.693G>A (ADA) | ||
| ENST00000696003.1:n.714G>A (ADA) | ||
| ENST00000696004.1:n.714G>A (ADA) | ||
| ENST00000696005.1:c.129-133G>A (ADA) | ||
| ENST00000696006.1:c.607-133G>A (ADA) | ENSP00000512325.1:n.607-133G>A | |
| ENST00000696007.1:c.473G>A (ADA) | ENSP00000512326.1:n.473G>A | |
| ENST00000696008.1:n.2900G>A (ADA) | ||
| ENST00000696017.1:c.619G>A (ADA) | ENSP00000512333.1:p.Gly207Ser | |
| ENST00000696034.1:c.622G>A (ADA) | ENSP00000512343.1:p.Gly208Ser | |
| ENST00000696035.1:n.732G>A (ADA) | ||
| ENST00000696036.1:n.1312G>A (ADA) | ||
| ENST00000696037.1:n.2299G>A (ADA) | ||
| ENST00000696038.1:c.*368G>A (ADA) | ENSP00000512344.1:n.*368G>A | |
| ENST00000696039.1:n.910G>A (ADA) | ||
| ENST00000696058.1:c.619G>A (ADA) | ENSP00000512361.1:p.Gly207Ser | |
| ENST00000696059.1:c.*567G>A (ADA) | ENSP00000512362.1:n.*567G>A | |
| ENST00000696060.1:c.691G>A (ADA) | ENSP00000512363.1:p.Gly231Ser | |
| ENST00000696061.1:c.619G>A (ADA) | ENSP00000512364.1:p.Gly207Ser | |
| ENST00000696062.1:c.685G>A (ADA) | ENSP00000512365.1:p.Gly229Ser | |
| ENST00000696063.1:c.697G>A (ADA) | ENSP00000512366.1:p.Gly233Ser | |
| ENST00000696064.1:c.469G>A (ADA) | ENSP00000512367.1:p.Gly157Ser | |
| ENST00000696065.1:c.66-133G>A (ADA) | ENSP00000512368.1:n.66-133G>A | |
| ENST00000696073.1:n.857G>A (ADA) | ||
| ENST00000696074.1:n.238G>A (ADA) | ||
| ENST00000696075.1:c.*592G>A (ADA) | ENSP00000512374.1:n.*592G>A | |
| ENST00000696076.1:c.691G>A (ADA) | ENSP00000512375.1:p.Gly231Ser | |
| ENST00000696077.1:c.616G>A (ADA) | ENSP00000512376.1:p.Gly206Ser | |
| ENST00000696078.1:c.619G>A (ADA) | ENSP00000512377.1:p.Gly207Ser | |
| ENST00000696079.1:c.619G>A (ADA) | ENSP00000512378.1:p.Gly207Ser | |
| ENST00000696080.1:c.622G>A (ADA) | ENSP00000512379.1:p.Gly208Ser | |
| ENST00000696081.1:n.741G>A (ADA) | ||
| ENST00000696082.1:c.697G>A (ADA) | ENSP00000512380.1:p.Gly233Ser | |
| ENST00000696083.1:n.1503G>A (ADA) | ||
| ENST00000696084.1:n.723G>A (ADA) | ||
| ENST00000696104.1:c.363-133G>A (ADA) | ENSP00000512399.1:n.363-133G>A | |
| ENST00000696105.1:c.*163G>A (ADA) | ENSP00000512400.1:n.*163G>A | |
| ENST00000372874.9:c.622G>A (ADA) MANE Select | ENSP00000361965.4:p.Gly208Ser | |
| ENST00000372874.8:c.622G>A (ADA) | ENSP00000361965.4:p.Gly208Ser | |
| ENST00000372887.5:c.152-870C>T (PKIG) | ENSP00000361978.1:n.152-870C>T | |
| ENST00000464097.5:n.296G>A (ADA) | ||
| ENST00000492931.5:n.706G>A (ADA) | ||
| ENST00000536532.5:c.622G>A (ADA) | ENSP00000440946.1:p.Gly208Ser | |
| ENST00000537820.1:c.607-133G>A (ADA) | ENSP00000441818.1:n.607-133G>A | |
| ENST00000539235.5:c.*6G>A (ADA) | ENSP00000446464.1:n.*6G>A | |
| NM_000022.2:c.622G>A , LRG_16t1:c.622G>A (ADA) | NP_000013.2:p.Gly208Ser | |
| XM_005260236.2:c.607-133G>A (ADA) | XP_005260293.1:n.607-133G>A | |
| XM_011528478.1:c.217G>A (ADA) | XP_011526780.1:p.Gly73Ser | |
| XM_011528479.1:c.217G>A (ADA) | XP_011526781.1:p.Gly73Ser | |
| XR_244129.1:n.676G>A (ADA) | ||
| NM_000022.3:c.622G>A (ADA) | NP_000013.2:p.Gly208Ser | |
| NM_001322050.1:c.217G>A (ADA) | NP_001308979.1:p.Gly73Ser | |
| NM_001322051.1:c.607-133G>A (ADA) | NP_001308980.1:n.607-133G>A | |
| NR_136160.1:n.773G>A (ADA) | ||
| NM_000022.4:c.622G>A (ADA) MANE Select | NP_000013.2:p.Gly208Ser | |
| NM_001322050.2:c.217G>A (ADA) | NP_001308979.1:p.Gly73Ser | |
| NM_001322051.2:c.607-133G>A (ADA) | NP_001308980.1:n.607-133G>A | |
| NR_136160.2:n.714G>A (ADA) |