Linked Data
ClinVar Variation Id:
1696220
ClinVar RCV Id:
RCV002266364
dbSNP Id:
rs1421855638
gnomAD v3:
20-44624269-A-G
gnomAD v4:
20-44624269-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624269A>G , CM000682.2:g.44624269A>G | GRCh38 |
| NC_000020.10:g.43252910A>G , CM000682.1:g.43252910A>G | GRCh37 |
| NC_000020.9:g.42686324A>G | NCBI36 |
| NG_007385.1:g.32467T>C , LRG_16:g.32467T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.630T>C | ||
| ENST00000536076.2:c.386T>C | ENSP00000512234.1:p.Ile129Thr | |
| ENST00000536532.6:c.539T>C | ENSP00000440946.1:p.Ile180Thr | |
| ENST00000537820.2:c.539T>C | ENSP00000441818.1:p.Ile180Thr | |
| ENST00000539235.6:c.219-1191T>C | ENSP00000446464.1:n.219-1191T>C | |
| ENST00000695889.1:c.219-1339T>C | ENSP00000512240.1:n.219-1339T>C | |
| ENST00000695890.1:n.2342T>C | ||
| ENST00000695891.1:c.219-1339T>C | ENSP00000512241.1:n.219-1339T>C | |
| ENST00000695927.1:c.617T>C | ENSP00000512270.1:p.Ile206Thr | |
| ENST00000695949.1:c.536T>C | ENSP00000512281.1:p.Ile179Thr | |
| ENST00000695957.1:c.*30T>C | ENSP00000512286.1:n.*30T>C | |
| ENST00000695991.1:c.217-1339T>C | ENSP00000512314.1:n.217-1339T>C | |
| ENST00000695992.1:c.539T>C | ENSP00000512315.1:p.Ile180Thr | |
| ENST00000695993.1:c.539T>C | ENSP00000512316.1:p.Ile180Thr | |
| ENST00000695994.1:c.539T>C | ENSP00000512317.1:p.Ile180Thr | |
| ENST00000695995.1:c.217-1191T>C | ENSP00000512318.1:n.217-1191T>C | |
| ENST00000695996.1:n.610T>C | ||
| ENST00000695997.1:n.494T>C | ||
| ENST00000696003.1:n.631T>C | ||
| ENST00000696004.1:n.631T>C | ||
| ENST00000696005.1:c.61T>C | ||
| ENST00000696006.1:c.539T>C | ENSP00000512325.1:p.Ile180Thr | |
| ENST00000696007.1:c.390T>C | ENSP00000512326.1:n.390T>C | |
| ENST00000696008.1:n.1694T>C | ||
| ENST00000696009.1:n.1889T>C | ||
| ENST00000696017.1:c.536T>C | ENSP00000512333.1:p.Ile179Thr | |
| ENST00000696034.1:c.539T>C | ENSP00000512343.1:p.Ile180Thr | |
| ENST00000696035.1:n.649T>C | ||
| ENST00000696036.1:n.1229T>C | ||
| ENST00000696037.1:n.2216T>C | ||
| ENST00000696038.1:c.*285T>C | ENSP00000512344.1:n.*285T>C | |
| ENST00000696039.1:n.827T>C | ||
| ENST00000696058.1:c.539T>C | ENSP00000512361.1:p.Ile180Thr | |
| ENST00000696059.1:c.*484T>C | ENSP00000512362.1:n.*484T>C | |
| ENST00000696060.1:c.539T>C | ENSP00000512363.1:p.Ile180Thr | |
| ENST00000696061.1:c.536T>C | ENSP00000512364.1:p.Ile179Thr | |
| ENST00000696062.1:c.602T>C | ENSP00000512365.1:p.Ile201Thr | |
| ENST00000696063.1:c.614T>C | ENSP00000512366.1:p.Ile205Thr | |
| ENST00000696064.1:c.386T>C | ENSP00000512367.1:p.Ile129Thr | |
| ENST00000696065.1:c.66-1339T>C | ENSP00000512368.1:n.66-1339T>C | |
| ENST00000696074.1:n.155T>C | ||
| ENST00000696075.1:c.*509T>C | ENSP00000512374.1:n.*509T>C | |
| ENST00000696076.1:c.539T>C | ENSP00000512375.1:p.Ile180Thr | |
| ENST00000696077.1:c.536T>C | ENSP00000512376.1:p.Ile179Thr | |
| ENST00000696078.1:c.539T>C | ENSP00000512377.1:p.Ile180Thr | |
| ENST00000696079.1:c.539T>C | ENSP00000512378.1:p.Ile180Thr | |
| ENST00000696080.1:c.539T>C | ENSP00000512379.1:p.Ile180Thr | |
| ENST00000696081.1:n.658T>C | ||
| ENST00000696082.1:c.617T>C | ENSP00000512380.1:p.Ile206Thr | |
| ENST00000696083.1:n.1420T>C | ||
| ENST00000696084.1:n.640T>C | ||
| ENST00000696104.1:c.363-1339T>C | ENSP00000512399.1:n.363-1339T>C | |
| ENST00000696105.1:c.*80T>C | ENSP00000512400.1:n.*80T>C | |
| ENST00000372874.9:c.539T>C MANE Select | ENSP00000361965.4:p.Ile180Thr | |
| ENST00000372874.8:c.539T>C | ENSP00000361965.4:p.Ile180Thr | |
| ENST00000464097.5:n.213T>C | ||
| ENST00000492931.5:n.623T>C | ||
| ENST00000536532.5:c.539T>C | ENSP00000440946.1:p.Ile180Thr | |
| ENST00000537820.1:c.539T>C | ENSP00000441818.1:p.Ile180Thr | |
| ENST00000539235.5:c.219-1191T>C | ENSP00000446464.1:n.219-1191T>C | |
| NM_000022.2:c.539T>C , LRG_16t1:c.539T>C | NP_000013.2:p.Ile180Thr | |
| XM_005260236.2:c.539T>C | XP_005260293.1:p.Ile180Thr | |
| XM_011528478.1:c.134T>C | XP_011526780.1:p.Ile45Thr | |
| XM_011528479.1:c.134T>C | XP_011526781.1:p.Ile45Thr | |
| XR_244129.1:n.593T>C | ||
| NM_000022.3:c.539T>C | NP_000013.2:p.Ile180Thr | |
| NM_001322050.1:c.134T>C | NP_001308979.1:p.Ile45Thr | |
| NM_001322051.1:c.539T>C | NP_001308980.1:p.Ile180Thr | |
| NR_136160.1:n.690T>C | ||
| NM_000022.4:c.539T>C MANE Select | NP_000013.2:p.Ile180Thr | |
| NM_001322050.2:c.134T>C | NP_001308979.1:p.Ile45Thr | |
| NM_001322051.2:c.539T>C | NP_001308980.1:p.Ile180Thr | |
| NR_136160.2:n.631T>C |