Linked Data
dbSNP Id:
rs1410968265
gnomAD v2:
11-126144979-C-T
gnomAD v3:
11-126275084-C-T
gnomAD v4:
11-126275084-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275084C>T , CM000673.2:g.126275084C>T | GRCh38 |
| NC_000011.9:g.126144979C>T , CM000673.1:g.126144979C>T | GRCh37 |
| NC_000011.8:g.125650189C>T | NCBI36 |
| NG_028029.1:g.11045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.872C>T | ||
| ENST00000532101.6:n.734-243C>T | ||
| ENST00000532125.2:c.628+63C>T | ENSP00000434178.2:n.628+63C>T | |
| ENST00000533839.6:c.86-710C>T | ENSP00000509952.1:n.86-710C>T | |
| ENST00000534011.6:n.923+63C>T | ||
| ENST00000685484.1:c.631+63C>T | ENSP00000510622.1:n.631+63C>T | |
| ENST00000685601.1:c.631+63C>T | ENSP00000510603.1:n.631+63C>T | |
| ENST00000685765.1:c.631+63C>T | ENSP00000509991.1:n.631+63C>T | |
| ENST00000685844.1:c.*169-243C>T | ENSP00000509820.1:n.*169-243C>T | |
| ENST00000685857.1:n.1128C>T | ||
| ENST00000686242.1:c.430+63C>T | ENSP00000508950.1:n.430+63C>T | |
| ENST00000686888.1:c.*198+63C>T | ENSP00000509619.1:n.*198+63C>T | |
| ENST00000687699.1:c.755+63C>T | ENSP00000508878.1:n.755+63C>T | |
| ENST00000687786.1:n.2068-243C>T | ||
| ENST00000688100.1:n.1552+63C>T | ||
| ENST00000688588.1:c.631+63C>T | ENSP00000510802.1:n.631+63C>T | |
| ENST00000688927.1:n.2600C>T | ||
| ENST00000689283.1:c.*294+63C>T | ENSP00000509050.1:n.*294+63C>T | |
| ENST00000689477.1:c.*524+63C>T | ENSP00000508945.1:n.*524+63C>T | |
| ENST00000689765.1:c.*169-287C>T | ENSP00000509625.1:n.*169-287C>T | |
| ENST00000690512.1:c.*482+63C>T | ENSP00000509793.1:n.*482+63C>T | |
| ENST00000692039.1:c.*429+63C>T | ENSP00000508821.1:n.*429+63C>T | |
| ENST00000692336.1:c.655+63C>T | ENSP00000508540.1:n.655+63C>T | |
| ENST00000693133.1:n.869C>T | ||
| ENST00000263578.10:c.631+63C>T MANE Select | ENSP00000263578.5:n.631+63C>T | |
| ENST00000263578.9:c.631+63C>T | ENSP00000263578.5:n.631+63C>T | |
| ENST00000524751.5:n.630C>T | ||
| ENST00000525083.5:n.352-243C>T | ||
| ENST00000525770.5:c.*263+63C>T | ENSP00000434739.1:n.*263+63C>T | |
| ENST00000527004.5:c.534-243C>T | ENSP00000436374.1:n.534-243C>T | |
| ENST00000527875.1:n.524C>T | ||
| ENST00000530642.1:n.1171C>T | ||
| ENST00000532101.5:n.854+63C>T | ||
| ENST00000532125.1:c.589+63C>T | ENSP00000434178.1:n.589+63C>T | |
| ENST00000533395.5:n.365-243C>T | ||
| ENST00000533839.5:n.238-710C>T | ||
| ENST00000534011.5:n.683+63C>T | ||
| ENST00000534315.5:n.944-243C>T | ||
| NM_017547.3:c.631+63C>T | NP_060017.1:n.631+63C>T | |
| NR_037647.1:n.577+63C>T | ||
| NR_037648.1:n.817+63C>T | ||
| XM_006718879.2:c.121+63C>T | XP_006718942.1:n.121+63C>T | |
| XM_006718880.2:c.-2-243C>T | XP_006718943.1:n.-2-243C>T | |
| XM_006718881.2:c.-2-243C>T | XP_006718944.1:n.-2-243C>T | |
| XM_011542895.1:c.121+63C>T | XP_011541197.1:n.121+63C>T | |
| XM_011542896.1:c.121+63C>T | XP_011541198.1:n.121+63C>T | |
| XM_006718879.3:c.121+63C>T | XP_006718942.1:n.121+63C>T | |
| XM_006718881.3:c.-2-243C>T | XP_006718944.1:n.-2-243C>T | |
| XM_011542895.2:c.121+63C>T | XP_011541197.1:n.121+63C>T | |
| XM_011542896.2:c.121+63C>T | XP_011541198.1:n.121+63C>T | |
| XM_017018000.2:c.631+63C>T | XP_016873489.1:n.631+63C>T | |
| XM_017018001.1:c.121+63C>T | XP_016873490.1:n.121+63C>T | |
| XM_017018002.1:c.121+63C>T | XP_016873491.1:n.121+63C>T | |
| XM_017018003.2:c.-2-243C>T | XP_016873492.1:n.-2-243C>T | |
| XM_017018004.1:c.-2-243C>T | XP_016873493.1:n.-2-243C>T | |
| XM_017018005.1:c.-2-243C>T | XP_016873494.1:n.-2-243C>T | |
| XM_017018006.2:c.-2-243C>T | XP_016873495.1:n.-2-243C>T | |
| NM_017547.4:c.631+63C>T MANE Select | NP_060017.1:n.631+63C>T | |
| NR_037647.2:n.463+63C>T | ||
| NR_037648.2:n.808+63C>T |