Linked Data
ClinVar Variation Id:
1955
ClinVar RCV Id:
RCV000002032
dbSNP Id:
rs121908717
gnomAD v3:
20-44626517-G-A
gnomAD v4:
20-44626517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44626517G>A , CM000682.2:g.44626517G>A | GRCh38 |
| NC_000020.10:g.43255158G>A , CM000682.1:g.43255158G>A | GRCh37 |
| NC_000020.9:g.42688572G>A | NCBI36 |
| NG_007385.1:g.30219C>T , LRG_16:g.30219C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.392C>T | ||
| ENST00000536076.2:c.148C>T | ENSP00000512234.1:p.Arg50Trp | |
| ENST00000536532.6:c.301C>T | ENSP00000440946.1:p.Arg101Trp | |
| ENST00000537820.2:c.301C>T | ENSP00000441818.1:p.Arg101Trp | |
| ENST00000539235.6:c.218+2530C>T | ENSP00000446464.1:n.218+2530C>T | |
| ENST00000695889.1:c.218+2530C>T | ENSP00000512240.1:n.218+2530C>T | |
| ENST00000695890.1:n.2104C>T | ||
| ENST00000695891.1:c.218+2530C>T | ENSP00000512241.1:n.218+2530C>T | |
| ENST00000695927.1:c.379C>T | ENSP00000512270.1:p.Arg127Trp | |
| ENST00000695949.1:c.298C>T | ENSP00000512281.1:p.Arg100Trp | |
| ENST00000695957.1:c.301C>T | ENSP00000512286.1:p.Arg101Trp | |
| ENST00000695991.1:c.216+2532C>T | ENSP00000512314.1:n.216+2532C>T | |
| ENST00000695992.1:c.301C>T | ENSP00000512315.1:p.Arg101Trp | |
| ENST00000695993.1:c.301C>T | ENSP00000512316.1:p.Arg101Trp | |
| ENST00000695994.1:c.301C>T | ENSP00000512317.1:p.Arg101Trp | |
| ENST00000695995.1:c.216+2532C>T | ENSP00000512318.1:n.216+2532C>T | |
| ENST00000695996.1:n.372C>T | ||
| ENST00000695997.1:n.372C>T | ||
| ENST00000696003.1:n.393C>T | ||
| ENST00000696004.1:n.393C>T | ||
| ENST00000696006.1:c.301C>T | ENSP00000512325.1:p.Arg101Trp | |
| ENST00000696007.1:c.268C>T | ENSP00000512326.1:p.Arg90Trp | |
| ENST00000696009.1:n.412C>T | ||
| ENST00000696017.1:c.298C>T | ENSP00000512333.1:p.Arg100Trp | |
| ENST00000696034.1:c.301C>T | ENSP00000512343.1:p.Arg101Trp | |
| ENST00000696035.1:n.411C>T | ||
| ENST00000696036.1:n.991C>T | ||
| ENST00000696037.1:n.1978C>T | ||
| ENST00000696038.1:c.*47C>T | ENSP00000512344.1:n.*47C>T | |
| ENST00000696039.1:n.589C>T | ||
| ENST00000696058.1:c.301C>T | ENSP00000512361.1:p.Arg101Trp | |
| ENST00000696059.1:c.*246C>T | ENSP00000512362.1:n.*246C>T | |
| ENST00000696060.1:c.301C>T | ENSP00000512363.1:p.Arg101Trp | |
| ENST00000696061.1:c.298C>T | ENSP00000512364.1:p.Arg100Trp | |
| ENST00000696062.1:c.364C>T | ENSP00000512365.1:p.Arg122Trp | |
| ENST00000696063.1:c.376C>T | ENSP00000512366.1:p.Arg126Trp | |
| ENST00000696064.1:c.148C>T | ENSP00000512367.1:p.Arg50Trp | |
| ENST00000696065.1:c.65+2530C>T | ENSP00000512368.1:n.65+2530C>T | |
| ENST00000696075.1:c.*271C>T | ENSP00000512374.1:n.*271C>T | |
| ENST00000696076.1:c.301C>T | ENSP00000512375.1:p.Arg101Trp | |
| ENST00000696077.1:c.298C>T | ENSP00000512376.1:p.Arg100Trp | |
| ENST00000696078.1:c.301C>T | ENSP00000512377.1:p.Arg101Trp | |
| ENST00000696079.1:c.301C>T | ENSP00000512378.1:p.Arg101Trp | |
| ENST00000696080.1:c.301C>T | ENSP00000512379.1:p.Arg101Trp | |
| ENST00000696082.1:c.379C>T | ENSP00000512380.1:p.Arg127Trp | |
| ENST00000696084.1:n.402C>T | ||
| ENST00000696104.1:c.301C>T | ENSP00000512399.1:p.Arg101Trp | |
| ENST00000696105.1:c.301C>T | ENSP00000512400.1:p.Arg101Trp | |
| ENST00000372874.9:c.301C>T MANE Select | ENSP00000361965.4:p.Arg101Trp | |
| ENST00000372874.8:c.301C>T | ENSP00000361965.4:p.Arg101Trp | |
| ENST00000492931.5:n.385C>T | ||
| ENST00000536076.1:n.481C>T | ||
| ENST00000536532.5:c.301C>T | ENSP00000440946.1:p.Arg101Trp | |
| ENST00000537820.1:c.301C>T | ENSP00000441818.1:p.Arg101Trp | |
| ENST00000539235.5:c.218+2530C>T | ENSP00000446464.1:n.218+2530C>T | |
| ENST00000545776.5:n.355C>T | ||
| NM_000022.2:c.301C>T , LRG_16t1:c.301C>T | NP_000013.2:p.Arg101Trp | |
| XM_005260236.2:c.301C>T | XP_005260293.1:p.Arg101Trp | |
| XM_011528478.1:c.12C>T | XP_011526780.1:p.Cys4= | |
| XM_011528479.1:c.12C>T | XP_011526781.1:p.Cys4= | |
| XR_244129.1:n.355C>T | ||
| NM_000022.3:c.301C>T | NP_000013.2:p.Arg101Trp | |
| NM_001322050.1:c.12C>T | NP_001308979.1:p.Cys4= | |
| NM_001322051.1:c.301C>T | NP_001308980.1:p.Arg101Trp | |
| NR_136160.1:n.452C>T | ||
| NM_000022.4:c.301C>T MANE Select | NP_000013.2:p.Arg101Trp | |
| NM_001322050.2:c.12C>T | NP_001308979.1:p.Cys4= | |
| NM_001322051.2:c.301C>T | NP_001308980.1:p.Arg101Trp | |
| NR_136160.2:n.393C>T |