Linked Data
ClinVar Variation Id:
68264
ClinVar RCV Id:
RCV000059103
dbSNP Id:
rs121908733
ExAC:
20:43254243 G / A
gnomAD v2:
20-43254243-G-A
gnomAD v3:
20-44625602-G-A
gnomAD v4:
20-44625602-G-A
ERepo:
CA266014/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44625602G>A , CM000682.2:g.44625602G>A | GRCh38 |
| NC_000020.10:g.43254243G>A , CM000682.1:g.43254243G>A | GRCh37 |
| NC_000020.9:g.42687657G>A | NCBI36 |
| NG_007385.1:g.31134C>T , LRG_16:g.31134C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.536C>T | ||
| ENST00000536076.2:c.292C>T | ENSP00000512234.1:p.Arg98Trp | |
| ENST00000536532.6:c.445C>T | ENSP00000440946.1:p.Arg149Trp | |
| ENST00000537820.2:c.445C>T | ENSP00000441818.1:p.Arg149Trp | |
| ENST00000539235.6:c.219-2524C>T | ENSP00000446464.1:n.219-2524C>T | |
| ENST00000695889.1:c.219-2672C>T | ENSP00000512240.1:n.219-2672C>T | |
| ENST00000695890.1:n.2248C>T | ||
| ENST00000695891.1:c.219-2672C>T | ENSP00000512241.1:n.219-2672C>T | |
| ENST00000695927.1:c.523C>T | ENSP00000512270.1:p.Arg175Trp | |
| ENST00000695949.1:c.442C>T | ENSP00000512281.1:p.Arg148Trp | |
| ENST00000695957.1:c.362+854C>T | ENSP00000512286.1:n.362+854C>T | |
| ENST00000695991.1:c.217-2672C>T | ENSP00000512314.1:n.217-2672C>T | |
| ENST00000695992.1:c.445C>T | ENSP00000512315.1:p.Arg149Trp | |
| ENST00000695993.1:c.445C>T | ENSP00000512316.1:p.Arg149Trp | |
| ENST00000695994.1:c.445C>T | ENSP00000512317.1:p.Arg149Trp | |
| ENST00000695995.1:c.217-2524C>T | ENSP00000512318.1:n.217-2524C>T | |
| ENST00000695996.1:n.516C>T | ||
| ENST00000695997.1:n.433+854C>T | ||
| ENST00000696003.1:n.537C>T | ||
| ENST00000696004.1:n.537C>T | ||
| ENST00000696006.1:c.445C>T | ENSP00000512325.1:p.Arg149Trp | |
| ENST00000696007.1:c.329+854C>T | ENSP00000512326.1:n.329+854C>T | |
| ENST00000696008.1:n.361C>T | ||
| ENST00000696009.1:n.556C>T | ||
| ENST00000696017.1:c.442C>T | ENSP00000512333.1:p.Arg148Trp | |
| ENST00000696034.1:c.445C>T | ENSP00000512343.1:p.Arg149Trp | |
| ENST00000696035.1:n.555C>T | ||
| ENST00000696036.1:n.1135C>T | ||
| ENST00000696037.1:n.2122C>T | ||
| ENST00000696038.1:c.*191C>T | ENSP00000512344.1:n.*191C>T | |
| ENST00000696039.1:n.733C>T | ||
| ENST00000696058.1:c.445C>T | ENSP00000512361.1:p.Arg149Trp | |
| ENST00000696059.1:c.*390C>T | ENSP00000512362.1:n.*390C>T | |
| ENST00000696060.1:c.445C>T | ENSP00000512363.1:p.Arg149Trp | |
| ENST00000696061.1:c.442C>T | ENSP00000512364.1:p.Arg148Trp | |
| ENST00000696062.1:c.508C>T | ENSP00000512365.1:p.Arg170Trp | |
| ENST00000696063.1:c.520C>T | ENSP00000512366.1:p.Arg174Trp | |
| ENST00000696064.1:c.292C>T | ENSP00000512367.1:p.Arg98Trp | |
| ENST00000696065.1:c.66-2672C>T | ENSP00000512368.1:n.66-2672C>T | |
| ENST00000696075.1:c.*415C>T | ENSP00000512374.1:n.*415C>T | |
| ENST00000696076.1:c.445C>T | ENSP00000512375.1:p.Arg149Trp | |
| ENST00000696077.1:c.442C>T | ENSP00000512376.1:p.Arg148Trp | |
| ENST00000696078.1:c.445C>T | ENSP00000512377.1:p.Arg149Trp | |
| ENST00000696079.1:c.445C>T | ENSP00000512378.1:p.Arg149Trp | |
| ENST00000696080.1:c.445C>T | ENSP00000512379.1:p.Arg149Trp | |
| ENST00000696082.1:c.523C>T | ENSP00000512380.1:p.Arg175Trp | |
| ENST00000696083.1:n.87C>T | ||
| ENST00000696084.1:n.546C>T | ||
| ENST00000696104.1:c.362+854C>T | ENSP00000512399.1:n.362+854C>T | |
| ENST00000696105.1:c.445C>T | ENSP00000512400.1:p.Arg149Trp | |
| ENST00000372874.9:c.445C>T MANE Select | ENSP00000361965.4:p.Arg149Trp | |
| ENST00000372874.8:c.445C>T | ENSP00000361965.4:p.Arg149Trp | |
| ENST00000464097.5:n.119C>T | ||
| ENST00000492931.5:n.529C>T | ||
| ENST00000536532.5:c.445C>T | ENSP00000440946.1:p.Arg149Trp | |
| ENST00000537820.1:c.445C>T | ENSP00000441818.1:p.Arg149Trp | |
| ENST00000539235.5:c.219-2524C>T | ENSP00000446464.1:n.219-2524C>T | |
| NM_000022.2:c.445C>T , LRG_16t1:c.445C>T | NP_000013.2:p.Arg149Trp | |
| XM_005260236.2:c.445C>T | XP_005260293.1:p.Arg149Trp | |
| XM_011528478.1:c.73+854C>T | XP_011526780.1:n.73+854C>T | |
| XM_011528479.1:c.73+854C>T | XP_011526781.1:n.73+854C>T | |
| XR_244129.1:n.499C>T | ||
| NM_000022.3:c.445C>T | NP_000013.2:p.Arg149Trp | |
| NM_001322050.1:c.73+854C>T | NP_001308979.1:n.73+854C>T | |
| NM_001322051.1:c.445C>T | NP_001308980.1:p.Arg149Trp | |
| NR_136160.1:n.596C>T | ||
| NM_000022.4:c.445C>T MANE Select | NP_000013.2:p.Arg149Trp | |
| NM_001322050.2:c.73+854C>T | NP_001308979.1:n.73+854C>T | |
| NM_001322051.2:c.445C>T | NP_001308980.1:p.Arg149Trp | |
| NR_136160.2:n.537C>T |