Linked Data
ClinVar Variation Id:
303536
dbSNP Id:
rs191604046
ExAC:
11:126144865 C / T
gnomAD v2:
11-126144865-C-T
gnomAD v3:
11-126274970-C-T
gnomAD v4:
11-126274970-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126274970C>T , CM000673.2:g.126274970C>T | GRCh38 |
| NC_000011.9:g.126144865C>T , CM000673.1:g.126144865C>T | GRCh37 |
| NC_000011.8:g.125650075C>T | NCBI36 |
| NG_028029.1:g.10931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.758C>T | ||
| ENST00000532101.6:n.734-357C>T | ||
| ENST00000532125.2:c.577C>T | ENSP00000434178.2:p.Arg193Trp | |
| ENST00000533839.6:c.86-824C>T | ENSP00000509952.1:n.86-824C>T | |
| ENST00000534011.6:n.872C>T | ||
| ENST00000685484.1:c.580C>T | ENSP00000510622.1:p.Arg194Trp | |
| ENST00000685601.1:c.580C>T | ENSP00000510603.1:p.Arg194Trp | |
| ENST00000685765.1:c.580C>T | ENSP00000509991.1:p.Arg194Trp | |
| ENST00000685844.1:c.*169-357C>T | ENSP00000509820.1:n.*169-357C>T | |
| ENST00000685857.1:n.1014C>T | ||
| ENST00000686242.1:c.379C>T | ENSP00000508950.1:n.379C>T | |
| ENST00000686888.1:c.*147C>T | ENSP00000509619.1:n.*147C>T | |
| ENST00000687699.1:c.704C>T | ENSP00000508878.1:n.704C>T | |
| ENST00000687786.1:n.2068-357C>T | ||
| ENST00000688100.1:n.1501C>T | ||
| ENST00000688588.1:c.580C>T | ENSP00000510802.1:p.Arg194Trp | |
| ENST00000688927.1:n.2486C>T | ||
| ENST00000689283.1:c.*243C>T | ENSP00000509050.1:n.*243C>T | |
| ENST00000689477.1:c.*473C>T | ENSP00000508945.1:n.*473C>T | |
| ENST00000689765.1:c.*169-401C>T | ENSP00000509625.1:n.*169-401C>T | |
| ENST00000690512.1:c.*431C>T | ENSP00000509793.1:n.*431C>T | |
| ENST00000692039.1:c.*378C>T | ENSP00000508821.1:n.*378C>T | |
| ENST00000692336.1:c.604C>T | ENSP00000508540.1:p.Arg202Trp | |
| ENST00000693133.1:n.755C>T | ||
| ENST00000263578.10:c.580C>T MANE Select | ENSP00000263578.5:p.Arg194Trp | |
| ENST00000263578.9:c.580C>T | ENSP00000263578.5:p.Arg194Trp | |
| ENST00000524751.5:n.516C>T | ||
| ENST00000525083.5:n.352-357C>T | ||
| ENST00000525770.5:c.*212C>T | ENSP00000434739.1:n.*212C>T | |
| ENST00000526366.5:n.511C>T | ||
| ENST00000527004.5:c.534-357C>T | ENSP00000436374.1:n.534-357C>T | |
| ENST00000527875.1:n.410C>T | ||
| ENST00000530642.1:n.1057C>T | ||
| ENST00000532101.5:n.803C>T | ||
| ENST00000532125.1:c.538C>T | ENSP00000434178.1:p.Arg180Trp | |
| ENST00000533395.5:n.365-357C>T | ||
| ENST00000533839.5:n.238-824C>T | ||
| ENST00000534011.5:n.632C>T | ||
| ENST00000534315.5:n.944-357C>T | ||
| NM_017547.3:c.580C>T | NP_060017.1:p.Arg194Trp | |
| NR_037647.1:n.526C>T | ||
| NR_037648.1:n.766C>T | ||
| XM_006718879.2:c.70C>T | XP_006718942.1:p.Arg24Trp | |
| XM_006718880.2:c.-2-357C>T | XP_006718943.1:n.-2-357C>T | |
| XM_006718881.2:c.-2-357C>T | XP_006718944.1:n.-2-357C>T | |
| XM_011542895.1:c.70C>T | XP_011541197.1:p.Arg24Trp | |
| XM_011542896.1:c.70C>T | XP_011541198.1:p.Arg24Trp | |
| XM_006718879.3:c.70C>T | XP_006718942.1:p.Arg24Trp | |
| XM_006718881.3:c.-2-357C>T | XP_006718944.1:n.-2-357C>T | |
| XM_011542895.2:c.70C>T | XP_011541197.1:p.Arg24Trp | |
| XM_011542896.2:c.70C>T | XP_011541198.1:p.Arg24Trp | |
| XM_017018000.2:c.580C>T | XP_016873489.1:p.Arg194Trp | |
| XM_017018001.1:c.70C>T | XP_016873490.1:p.Arg24Trp | |
| XM_017018002.1:c.70C>T | XP_016873491.1:p.Arg24Trp | |
| XM_017018003.2:c.-2-357C>T | XP_016873492.1:n.-2-357C>T | |
| XM_017018004.1:c.-2-357C>T | XP_016873493.1:n.-2-357C>T | |
| XM_017018005.1:c.-2-357C>T | XP_016873494.1:n.-2-357C>T | |
| XM_017018006.2:c.-2-357C>T | XP_016873495.1:n.-2-357C>T | |
| NM_017547.4:c.580C>T MANE Select | NP_060017.1:p.Arg194Trp | |
| NR_037647.2:n.412C>T | ||
| NR_037648.2:n.757C>T |