Linked Data
ClinVar Variation Id:
854608
ClinVar RCV Id:
RCV001059692
dbSNP Id:
rs990121469
gnomAD v2:
20-43254236-A-G
gnomAD v4:
20-44625595-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44625595A>G , CM000682.2:g.44625595A>G | GRCh38 |
| NC_000020.10:g.43254236A>G , CM000682.1:g.43254236A>G | GRCh37 |
| NC_000020.9:g.42687650A>G | NCBI36 |
| NG_007385.1:g.31141T>C , LRG_16:g.31141T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.543T>C | ||
| ENST00000536076.2:c.299T>C | ENSP00000512234.1:p.Ile100Thr | |
| ENST00000536532.6:c.452T>C | ENSP00000440946.1:p.Ile151Thr | |
| ENST00000537820.2:c.452T>C | ENSP00000441818.1:p.Ile151Thr | |
| ENST00000539235.6:c.219-2517T>C | ENSP00000446464.1:n.219-2517T>C | |
| ENST00000695889.1:c.219-2665T>C | ENSP00000512240.1:n.219-2665T>C | |
| ENST00000695890.1:n.2255T>C | ||
| ENST00000695891.1:c.219-2665T>C | ENSP00000512241.1:n.219-2665T>C | |
| ENST00000695927.1:c.530T>C | ENSP00000512270.1:p.Ile177Thr | |
| ENST00000695949.1:c.449T>C | ENSP00000512281.1:p.Ile150Thr | |
| ENST00000695957.1:c.362+861T>C | ENSP00000512286.1:n.362+861T>C | |
| ENST00000695991.1:c.217-2665T>C | ENSP00000512314.1:n.217-2665T>C | |
| ENST00000695992.1:c.452T>C | ENSP00000512315.1:p.Ile151Thr | |
| ENST00000695993.1:c.452T>C | ENSP00000512316.1:p.Ile151Thr | |
| ENST00000695994.1:c.452T>C | ENSP00000512317.1:p.Ile151Thr | |
| ENST00000695995.1:c.217-2517T>C | ENSP00000512318.1:n.217-2517T>C | |
| ENST00000695996.1:n.523T>C | ||
| ENST00000695997.1:n.433+861T>C | ||
| ENST00000696003.1:n.544T>C | ||
| ENST00000696004.1:n.544T>C | ||
| ENST00000696006.1:c.452T>C | ENSP00000512325.1:p.Ile151Thr | |
| ENST00000696007.1:c.329+861T>C | ENSP00000512326.1:n.329+861T>C | |
| ENST00000696008.1:n.368T>C | ||
| ENST00000696009.1:n.563T>C | ||
| ENST00000696017.1:c.449T>C | ENSP00000512333.1:p.Ile150Thr | |
| ENST00000696034.1:c.452T>C | ENSP00000512343.1:p.Ile151Thr | |
| ENST00000696035.1:n.562T>C | ||
| ENST00000696036.1:n.1142T>C | ||
| ENST00000696037.1:n.2129T>C | ||
| ENST00000696038.1:c.*198T>C | ENSP00000512344.1:n.*198T>C | |
| ENST00000696039.1:n.740T>C | ||
| ENST00000696058.1:c.452T>C | ENSP00000512361.1:p.Ile151Thr | |
| ENST00000696059.1:c.*397T>C | ENSP00000512362.1:n.*397T>C | |
| ENST00000696060.1:c.452T>C | ENSP00000512363.1:p.Ile151Thr | |
| ENST00000696061.1:c.449T>C | ENSP00000512364.1:p.Ile150Thr | |
| ENST00000696062.1:c.515T>C | ENSP00000512365.1:p.Ile172Thr | |
| ENST00000696063.1:c.527T>C | ENSP00000512366.1:p.Ile176Thr | |
| ENST00000696064.1:c.299T>C | ENSP00000512367.1:p.Ile100Thr | |
| ENST00000696065.1:c.66-2665T>C | ENSP00000512368.1:n.66-2665T>C | |
| ENST00000696075.1:c.*422T>C | ENSP00000512374.1:n.*422T>C | |
| ENST00000696076.1:c.452T>C | ENSP00000512375.1:p.Ile151Thr | |
| ENST00000696077.1:c.449T>C | ENSP00000512376.1:p.Ile150Thr | |
| ENST00000696078.1:c.452T>C | ENSP00000512377.1:p.Ile151Thr | |
| ENST00000696079.1:c.452T>C | ENSP00000512378.1:p.Ile151Thr | |
| ENST00000696080.1:c.452T>C | ENSP00000512379.1:p.Ile151Thr | |
| ENST00000696082.1:c.530T>C | ENSP00000512380.1:p.Ile177Thr | |
| ENST00000696083.1:n.94T>C | ||
| ENST00000696084.1:n.553T>C | ||
| ENST00000696104.1:c.362+861T>C | ENSP00000512399.1:n.362+861T>C | |
| ENST00000696105.1:c.452T>C | ENSP00000512400.1:p.Ile151Thr | |
| ENST00000372874.9:c.452T>C MANE Select | ENSP00000361965.4:p.Ile151Thr | |
| ENST00000372874.8:c.452T>C | ENSP00000361965.4:p.Ile151Thr | |
| ENST00000464097.5:n.126T>C | ||
| ENST00000492931.5:n.536T>C | ||
| ENST00000536532.5:c.452T>C | ENSP00000440946.1:p.Ile151Thr | |
| ENST00000537820.1:c.452T>C | ENSP00000441818.1:p.Ile151Thr | |
| ENST00000539235.5:c.219-2517T>C | ENSP00000446464.1:n.219-2517T>C | |
| NM_000022.2:c.452T>C , LRG_16t1:c.452T>C | NP_000013.2:p.Ile151Thr | |
| XM_005260236.2:c.452T>C | XP_005260293.1:p.Ile151Thr | |
| XM_011528478.1:c.73+861T>C | XP_011526780.1:n.73+861T>C | |
| XM_011528479.1:c.73+861T>C | XP_011526781.1:n.73+861T>C | |
| XR_244129.1:n.506T>C | ||
| NM_000022.3:c.452T>C | NP_000013.2:p.Ile151Thr | |
| NM_001322050.1:c.73+861T>C | NP_001308979.1:n.73+861T>C | |
| NM_001322051.1:c.452T>C | NP_001308980.1:p.Ile151Thr | |
| NR_136160.1:n.603T>C | ||
| NM_000022.4:c.452T>C MANE Select | NP_000013.2:p.Ile151Thr | |
| NM_001322050.2:c.73+861T>C | NP_001308979.1:n.73+861T>C | |
| NM_001322051.2:c.452T>C | NP_001308980.1:p.Ile151Thr | |
| NR_136160.2:n.544T>C |