Linked Data
dbSNP Id:
rs1283078005
gnomAD v2:
11-126144851-C-G
gnomAD v3:
11-126274956-C-G
gnomAD v4:
11-126274956-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126274956C>G , CM000673.2:g.126274956C>G | GRCh38 |
| NC_000011.9:g.126144851C>G , CM000673.1:g.126144851C>G | GRCh37 |
| NC_000011.8:g.125650061C>G | NCBI36 |
| NG_028029.1:g.10917C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.744C>G | ||
| ENST00000532101.6:n.734-371C>G | ||
| ENST00000532125.2:c.563C>G | ENSP00000434178.2:p.Ser188Cys | |
| ENST00000533839.6:c.86-838C>G | ENSP00000509952.1:n.86-838C>G | |
| ENST00000534011.6:n.858C>G | ||
| ENST00000685484.1:c.566C>G | ENSP00000510622.1:p.Ser189Cys | |
| ENST00000685601.1:c.566C>G | ENSP00000510603.1:p.Ser189Cys | |
| ENST00000685765.1:c.566C>G | ENSP00000509991.1:p.Ser189Cys | |
| ENST00000685844.1:c.*169-371C>G | ENSP00000509820.1:n.*169-371C>G | |
| ENST00000685857.1:n.1000C>G | ||
| ENST00000686242.1:c.365C>G | ENSP00000508950.1:n.365C>G | |
| ENST00000686888.1:c.*133C>G | ENSP00000509619.1:n.*133C>G | |
| ENST00000687699.1:c.690C>G | ENSP00000508878.1:n.690C>G | |
| ENST00000687786.1:n.2068-371C>G | ||
| ENST00000688100.1:n.1487C>G | ||
| ENST00000688588.1:c.566C>G | ENSP00000510802.1:p.Ser189Cys | |
| ENST00000688927.1:n.2472C>G | ||
| ENST00000689283.1:c.*229C>G | ENSP00000509050.1:n.*229C>G | |
| ENST00000689477.1:c.*459C>G | ENSP00000508945.1:n.*459C>G | |
| ENST00000689765.1:c.*169-415C>G | ENSP00000509625.1:n.*169-415C>G | |
| ENST00000690512.1:c.*417C>G | ENSP00000509793.1:n.*417C>G | |
| ENST00000692039.1:c.*364C>G | ENSP00000508821.1:n.*364C>G | |
| ENST00000692336.1:c.590C>G | ENSP00000508540.1:p.Ser197Cys | |
| ENST00000693133.1:n.741C>G | ||
| ENST00000263578.10:c.566C>G MANE Select | ENSP00000263578.5:p.Ser189Cys | |
| ENST00000263578.9:c.566C>G | ENSP00000263578.5:p.Ser189Cys | |
| ENST00000524751.5:n.502C>G | ||
| ENST00000525083.5:n.352-371C>G | ||
| ENST00000525770.5:c.*198C>G | ENSP00000434739.1:n.*198C>G | |
| ENST00000526366.5:n.497C>G | ||
| ENST00000527004.5:c.534-371C>G | ENSP00000436374.1:n.534-371C>G | |
| ENST00000527875.1:n.396C>G | ||
| ENST00000530642.1:n.1043C>G | ||
| ENST00000532101.5:n.789C>G | ||
| ENST00000532125.1:c.524C>G | ENSP00000434178.1:p.Ser175Cys | |
| ENST00000533395.5:n.365-371C>G | ||
| ENST00000533839.5:n.238-838C>G | ||
| ENST00000534011.5:n.618C>G | ||
| ENST00000534315.5:n.944-371C>G | ||
| NM_017547.3:c.566C>G | NP_060017.1:p.Ser189Cys | |
| NR_037647.1:n.512C>G | ||
| NR_037648.1:n.752C>G | ||
| XM_006718879.2:c.56C>G | XP_006718942.1:p.Ser19Cys | |
| XM_006718880.2:c.-2-371C>G | XP_006718943.1:n.-2-371C>G | |
| XM_006718881.2:c.-2-371C>G | XP_006718944.1:n.-2-371C>G | |
| XM_011542895.1:c.56C>G | XP_011541197.1:p.Ser19Cys | |
| XM_011542896.1:c.56C>G | XP_011541198.1:p.Ser19Cys | |
| XM_006718879.3:c.56C>G | XP_006718942.1:p.Ser19Cys | |
| XM_006718881.3:c.-2-371C>G | XP_006718944.1:n.-2-371C>G | |
| XM_011542895.2:c.56C>G | XP_011541197.1:p.Ser19Cys | |
| XM_011542896.2:c.56C>G | XP_011541198.1:p.Ser19Cys | |
| XM_017018000.2:c.566C>G | XP_016873489.1:p.Ser189Cys | |
| XM_017018001.1:c.56C>G | XP_016873490.1:p.Ser19Cys | |
| XM_017018002.1:c.56C>G | XP_016873491.1:p.Ser19Cys | |
| XM_017018003.2:c.-2-371C>G | XP_016873492.1:n.-2-371C>G | |
| XM_017018004.1:c.-2-371C>G | XP_016873493.1:n.-2-371C>G | |
| XM_017018005.1:c.-2-371C>G | XP_016873494.1:n.-2-371C>G | |
| XM_017018006.2:c.-2-371C>G | XP_016873495.1:n.-2-371C>G | |
| NM_017547.4:c.566C>G MANE Select | NP_060017.1:p.Ser189Cys | |
| NR_037647.2:n.398C>G | ||
| NR_037648.2:n.743C>G |