Linked Data
dbSNP Id:
rs771872291
ExAC:
20:43252947 G / A
gnomAD v2:
20-43252947-G-A
gnomAD v4:
20-44624306-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624306G>A , CM000682.2:g.44624306G>A | GRCh38 |
| NC_000020.10:g.43252947G>A , CM000682.1:g.43252947G>A | GRCh37 |
| NC_000020.9:g.42686361G>A | NCBI36 |
| NG_007385.1:g.32430C>T , LRG_16:g.32430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.593C>T | ||
| ENST00000536076.2:c.349C>T | ENSP00000512234.1:p.Leu117= | |
| ENST00000536532.6:c.502C>T | ENSP00000440946.1:p.Leu168= | |
| ENST00000537820.2:c.502C>T | ENSP00000441818.1:p.Leu168= | |
| ENST00000539235.6:c.219-1228C>T | ENSP00000446464.1:n.219-1228C>T | |
| ENST00000695889.1:c.219-1376C>T | ENSP00000512240.1:n.219-1376C>T | |
| ENST00000695890.1:n.2305C>T | ||
| ENST00000695891.1:c.219-1376C>T | ENSP00000512241.1:n.219-1376C>T | |
| ENST00000695927.1:c.580C>T | ENSP00000512270.1:p.Leu194= | |
| ENST00000695949.1:c.499C>T | ENSP00000512281.1:p.Leu167= | |
| ENST00000695957.1:c.386C>T | ENSP00000512286.1:p.Ala129Val | |
| ENST00000695991.1:c.217-1376C>T | ENSP00000512314.1:n.217-1376C>T | |
| ENST00000695992.1:c.502C>T | ENSP00000512315.1:p.Leu168= | |
| ENST00000695993.1:c.502C>T | ENSP00000512316.1:p.Leu168= | |
| ENST00000695994.1:c.502C>T | ENSP00000512317.1:p.Leu168= | |
| ENST00000695995.1:c.217-1228C>T | ENSP00000512318.1:n.217-1228C>T | |
| ENST00000695996.1:n.573C>T | ||
| ENST00000695997.1:n.457C>T | ||
| ENST00000696003.1:n.594C>T | ||
| ENST00000696004.1:n.594C>T | ||
| ENST00000696005.1:c.24C>T | ||
| ENST00000696006.1:c.502C>T | ENSP00000512325.1:p.Leu168= | |
| ENST00000696007.1:c.353C>T | ENSP00000512326.1:p.Ala118Val | |
| ENST00000696008.1:n.1657C>T | ||
| ENST00000696009.1:n.1852C>T | ||
| ENST00000696017.1:c.499C>T | ENSP00000512333.1:p.Leu167= | |
| ENST00000696034.1:c.502C>T | ENSP00000512343.1:p.Leu168= | |
| ENST00000696035.1:n.612C>T | ||
| ENST00000696036.1:n.1192C>T | ||
| ENST00000696037.1:n.2179C>T | ||
| ENST00000696038.1:c.*248C>T | ENSP00000512344.1:n.*248C>T | |
| ENST00000696039.1:n.790C>T | ||
| ENST00000696058.1:c.502C>T | ENSP00000512361.1:p.Leu168= | |
| ENST00000696059.1:c.*447C>T | ENSP00000512362.1:n.*447C>T | |
| ENST00000696060.1:c.502C>T | ENSP00000512363.1:p.Leu168= | |
| ENST00000696061.1:c.499C>T | ENSP00000512364.1:p.Leu167= | |
| ENST00000696062.1:c.565C>T | ENSP00000512365.1:p.Leu189= | |
| ENST00000696063.1:c.577C>T | ENSP00000512366.1:p.Leu193= | |
| ENST00000696064.1:c.349C>T | ENSP00000512367.1:p.Leu117= | |
| ENST00000696065.1:c.66-1376C>T | ENSP00000512368.1:n.66-1376C>T | |
| ENST00000696074.1:n.118C>T | ||
| ENST00000696075.1:c.*472C>T | ENSP00000512374.1:n.*472C>T | |
| ENST00000696076.1:c.502C>T | ENSP00000512375.1:p.Leu168= | |
| ENST00000696077.1:c.499C>T | ENSP00000512376.1:p.Leu167= | |
| ENST00000696078.1:c.502C>T | ENSP00000512377.1:p.Leu168= | |
| ENST00000696079.1:c.502C>T | ENSP00000512378.1:p.Leu168= | |
| ENST00000696080.1:c.502C>T | ENSP00000512379.1:p.Leu168= | |
| ENST00000696081.1:n.621C>T | ||
| ENST00000696082.1:c.580C>T | ENSP00000512380.1:p.Leu194= | |
| ENST00000696083.1:n.1383C>T | ||
| ENST00000696084.1:n.603C>T | ||
| ENST00000696104.1:c.363-1376C>T | ENSP00000512399.1:n.363-1376C>T | |
| ENST00000696105.1:c.*43C>T | ENSP00000512400.1:n.*43C>T | |
| ENST00000372874.9:c.502C>T MANE Select | ENSP00000361965.4:p.Leu168= | |
| ENST00000372874.8:c.502C>T | ENSP00000361965.4:p.Leu168= | |
| ENST00000464097.5:n.176C>T | ||
| ENST00000492931.5:n.586C>T | ||
| ENST00000536532.5:c.502C>T | ENSP00000440946.1:p.Leu168= | |
| ENST00000537820.1:c.502C>T | ENSP00000441818.1:p.Leu168= | |
| ENST00000539235.5:c.219-1228C>T | ENSP00000446464.1:n.219-1228C>T | |
| NM_000022.2:c.502C>T , LRG_16t1:c.502C>T | NP_000013.2:p.Leu168= | |
| XM_005260236.2:c.502C>T | XP_005260293.1:p.Leu168= | |
| XM_011528478.1:c.97C>T | XP_011526780.1:p.Leu33= | |
| XM_011528479.1:c.97C>T | XP_011526781.1:p.Leu33= | |
| XR_244129.1:n.556C>T | ||
| NM_000022.3:c.502C>T | NP_000013.2:p.Leu168= | |
| NM_001322050.1:c.97C>T | NP_001308979.1:p.Leu33= | |
| NM_001322051.1:c.502C>T | NP_001308980.1:p.Leu168= | |
| NR_136160.1:n.653C>T | ||
| NM_000022.4:c.502C>T MANE Select | NP_000013.2:p.Leu168= | |
| NM_001322050.2:c.97C>T | NP_001308979.1:p.Leu33= | |
| NM_001322051.2:c.502C>T | NP_001308980.1:p.Leu168= | |
| NR_136160.2:n.594C>T |