Linked Data
ClinVar Variation Id:
1980
dbSNP Id:
rs121908729
gnomAD v4:
20-44622911-G-A
PubMed:
PMID:9225964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44622911G>A , CM000682.2:g.44622911G>A | GRCh38 |
| NC_000020.10:g.43251552G>A , CM000682.1:g.43251552G>A | GRCh37 |
| NC_000020.9:g.42684966G>A | NCBI36 |
| NG_007385.1:g.33825C>T , LRG_16:g.33825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.865C>T (ADA) | ||
| ENST00000536076.2:c.545C>T (ADA) | ENSP00000512234.1:p.Thr182Ile | |
| ENST00000536532.6:c.698C>T (ADA) | ENSP00000440946.1:p.Thr233Ile | |
| ENST00000537820.2:c.626C>T (ADA) | ENSP00000441818.1:p.Thr209Ile | |
| ENST00000539235.6:c.*82C>T (ADA) | ENSP00000446464.1:n.*82C>T | |
| ENST00000695889.1:c.238C>T (ADA) | ENSP00000512240.1:p.Gln80Ter | |
| ENST00000695890.1:n.2577C>T (ADA) | ||
| ENST00000695891.1:c.238C>T (ADA) | ENSP00000512241.1:p.Gln80Ter | |
| ENST00000695927.1:c.776C>T (ADA) | ENSP00000512270.1:p.Thr259Ile | |
| ENST00000695949.1:c.623C>T (ADA) | ENSP00000512281.1:p.Thr208Ile | |
| ENST00000695957.1:c.*189C>T (ADA) | ENSP00000512286.1:n.*189C>T | |
| ENST00000695991.1:c.236C>T (ADA) | ENSP00000512314.1:p.Thr79Ile | |
| ENST00000695992.1:c.698C>T (ADA) | ENSP00000512315.1:p.Thr233Ile | |
| ENST00000695993.1:c.698C>T (ADA) | ENSP00000512316.1:p.Thr233Ile | |
| ENST00000695994.1:c.671C>T (ADA) | ENSP00000512317.1:p.Thr224Ile | |
| ENST00000695995.1:c.308C>T (ADA) | ENSP00000512318.1:p.Thr103Ile | |
| ENST00000695996.1:n.845C>T (ADA) | ||
| ENST00000696003.1:n.866C>T (ADA) | ||
| ENST00000696004.1:n.866C>T (ADA) | ||
| ENST00000696005.1:c.148C>T (ADA) | ||
| ENST00000696006.1:c.626C>T (ADA) | ENSP00000512325.1:p.Thr209Ile | |
| ENST00000696007.1:c.625C>T (ADA) | ENSP00000512326.1:n.625C>T | |
| ENST00000696008.1:n.3052C>T (ADA) | ||
| ENST00000696017.1:c.695C>T (ADA) | ENSP00000512333.1:p.Thr232Ile | |
| ENST00000696034.1:c.698C>T (ADA) | ENSP00000512343.1:p.Thr233Ile | |
| ENST00000696035.1:n.884C>T (ADA) | ||
| ENST00000696036.1:n.1464C>T (ADA) | ||
| ENST00000696037.1:n.2375C>T (ADA) | ||
| ENST00000696038.1:c.*520C>T (ADA) | ENSP00000512344.1:n.*520C>T | |
| ENST00000696039.1:n.1062C>T (ADA) | ||
| ENST00000696058.1:c.695C>T (ADA) | ENSP00000512361.1:p.Thr232Ile | |
| ENST00000696059.1:c.*643C>T (ADA) | ENSP00000512362.1:n.*643C>T | |
| ENST00000696060.1:c.767C>T (ADA) | ENSP00000512363.1:p.Thr256Ile | |
| ENST00000696061.1:c.695C>T (ADA) | ENSP00000512364.1:p.Thr232Ile | |
| ENST00000696062.1:c.761C>T (ADA) | ENSP00000512365.1:p.Thr254Ile | |
| ENST00000696063.1:c.773C>T (ADA) | ENSP00000512366.1:p.Thr258Ile | |
| ENST00000696064.1:c.545C>T (ADA) | ENSP00000512367.1:p.Thr182Ile | |
| ENST00000696065.1:c.85C>T (ADA) | ENSP00000512368.1:p.Gln29Ter | |
| ENST00000696073.1:n.1009C>T (ADA) | ||
| ENST00000696074.1:n.314C>T (ADA) | ||
| ENST00000696075.1:c.*668C>T (ADA) | ENSP00000512374.1:n.*668C>T | |
| ENST00000696076.1:c.767C>T (ADA) | ENSP00000512375.1:p.Thr256Ile | |
| ENST00000696077.1:c.692C>T (ADA) | ENSP00000512376.1:p.Thr231Ile | |
| ENST00000696078.1:c.695C>T (ADA) | ENSP00000512377.1:p.Thr232Ile | |
| ENST00000696079.1:c.695C>T (ADA) | ENSP00000512378.1:p.Thr232Ile | |
| ENST00000696080.1:c.698C>T (ADA) | ENSP00000512379.1:p.Thr233Ile | |
| ENST00000696081.1:n.817C>T (ADA) | ||
| ENST00000696082.1:c.773C>T (ADA) | ENSP00000512380.1:p.Thr258Ile | |
| ENST00000696083.1:n.1655C>T (ADA) | ||
| ENST00000696084.1:n.875C>T (ADA) | ||
| ENST00000696104.1:c.382C>T (ADA) | ENSP00000512399.1:p.Gln128Ter | |
| ENST00000372874.9:c.698C>T (ADA) MANE Select | ENSP00000361965.4:p.Thr233Ile | |
| ENST00000372874.8:c.698C>T (ADA) | ENSP00000361965.4:p.Thr233Ile | |
| ENST00000372887.5:c.152-1022G>A (PKIG) | ENSP00000361978.1:n.152-1022G>A | |
| ENST00000464097.5:n.448C>T (ADA) | ||
| ENST00000492931.5:n.858C>T (ADA) | ||
| ENST00000536532.5:c.698C>T (ADA) | ENSP00000440946.1:p.Thr233Ile | |
| ENST00000537820.1:c.626C>T (ADA) | ENSP00000441818.1:p.Thr209Ile | |
| ENST00000539235.5:c.*82C>T (ADA) | ENSP00000446464.1:n.*82C>T | |
| NM_000022.2:c.698C>T , LRG_16t1:c.698C>T (ADA) | NP_000013.2:p.Thr233Ile | |
| XM_005260236.2:c.626C>T (ADA) | XP_005260293.1:p.Thr209Ile | |
| XM_011528478.1:c.293C>T (ADA) | XP_011526780.1:p.Thr98Ile | |
| XM_011528479.1:c.293C>T (ADA) | XP_011526781.1:p.Thr98Ile | |
| XR_244129.1:n.752C>T (ADA) | ||
| NM_000022.3:c.698C>T (ADA) | NP_000013.2:p.Thr233Ile | |
| NM_001322050.1:c.293C>T (ADA) | NP_001308979.1:p.Thr98Ile | |
| NM_001322051.1:c.626C>T (ADA) | NP_001308980.1:p.Thr209Ile | |
| NR_136160.1:n.849C>T (ADA) | ||
| NM_000022.4:c.698C>T (ADA) MANE Select | NP_000013.2:p.Thr233Ile | |
| NM_001322050.2:c.293C>T (ADA) | NP_001308979.1:p.Thr98Ile | |
| NM_001322051.2:c.626C>T (ADA) | NP_001308980.1:p.Thr209Ile | |
| NR_136160.2:n.790C>T (ADA) |