Linked Data
dbSNP Id:
rs763719921
ExAC:
11:126141394 T / C
gnomAD v2:
11-126141394-T-C
gnomAD v4:
11-126271499-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126271499T>C , CM000673.2:g.126271499T>C | GRCh38 |
| NC_000011.9:g.126141394T>C , CM000673.1:g.126141394T>C | GRCh37 |
| NC_000011.8:g.125646604T>C | NCBI36 |
| NG_028029.1:g.7460T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.326T>C | ||
| ENST00000532101.6:n.325T>C | ||
| ENST00000532125.2:c.148T>C | ENSP00000434178.2:p.Cys50Arg | |
| ENST00000533839.6:c.85+2208T>C | ENSP00000509952.1:n.85+2208T>C | |
| ENST00000534011.6:n.424T>C | ||
| ENST00000685484.1:c.148T>C | ENSP00000510622.1:p.Cys50Arg | |
| ENST00000685601.1:c.148T>C | ENSP00000510603.1:p.Cys50Arg | |
| ENST00000685765.1:c.148T>C | ENSP00000509991.1:p.Cys50Arg | |
| ENST00000685844.1:c.86-1470T>C | ENSP00000509820.1:n.86-1470T>C | |
| ENST00000685857.1:n.326T>C | ||
| ENST00000686242.1:c.86-1470T>C | ENSP00000508950.1:n.86-1470T>C | |
| ENST00000686888.1:c.148T>C | ENSP00000509619.1:p.Cys50Arg | |
| ENST00000687699.1:c.272T>C | ENSP00000508878.1:n.272T>C | |
| ENST00000687786.1:n.1481T>C | ||
| ENST00000688588.1:c.148T>C | ENSP00000510802.1:p.Cys50Arg | |
| ENST00000688927.1:n.326T>C | ||
| ENST00000689283.1:c.210-1470T>C | ENSP00000509050.1:n.210-1470T>C | |
| ENST00000689477.1:c.*41T>C | ENSP00000508945.1:n.*41T>C | |
| ENST00000689765.1:c.86-1470T>C | ENSP00000509625.1:n.86-1470T>C | |
| ENST00000690512.1:c.86-979T>C | ENSP00000509793.1:n.86-979T>C | |
| ENST00000692039.1:c.234T>C | ENSP00000508821.1:p.Pro78= | |
| ENST00000692336.1:c.148T>C | ENSP00000508540.1:p.Cys50Arg | |
| ENST00000693133.1:n.226-1470T>C | ||
| ENST00000263578.10:c.148T>C MANE Select | ENSP00000263578.5:p.Cys50Arg | |
| ENST00000263578.9:c.148T>C | ENSP00000263578.5:p.Cys50Arg | |
| ENST00000524751.5:n.223-1470T>C | ||
| ENST00000525083.5:n.122-1470T>C | ||
| ENST00000525770.5:c.86-1470T>C | ENSP00000434739.1:n.86-1470T>C | |
| ENST00000526366.5:n.101-220T>C | ||
| ENST00000526525.1:n.246-1470T>C | ||
| ENST00000527004.5:c.148T>C | ENSP00000436374.1:p.Cys50Arg | |
| ENST00000529802.1:n.198T>C | ||
| ENST00000532101.5:n.371T>C | ||
| ENST00000532125.1:c.106T>C | ENSP00000434178.1:p.Cys36Arg | |
| ENST00000533839.5:n.237+2208T>C | ||
| ENST00000534011.5:n.158-979T>C | ||
| ENST00000534315.5:n.555T>C | ||
| NM_017547.3:c.148T>C | NP_060017.1:p.Cys50Arg | |
| NR_037647.1:n.253-1470T>C | ||
| NR_037648.1:n.334T>C | ||
| XM_006718880.2:c.-391T>C | XP_006718943.1:n.-391T>C | |
| XM_006718881.2:c.-232-1470T>C | XP_006718944.1:n.-232-1470T>C | |
| XM_011542895.1:c.-363T>C | XP_011541197.1:n.-363T>C | |
| XM_011542896.1:c.-383T>C | XP_011541198.1:n.-383T>C | |
| XM_006718881.3:c.-232-1470T>C | XP_006718944.1:n.-232-1470T>C | |
| XM_011542895.2:c.-363T>C | XP_011541197.1:n.-363T>C | |
| XM_011542896.2:c.-383T>C | XP_011541198.1:n.-383T>C | |
| XM_017018000.2:c.148T>C | XP_016873489.1:p.Cys50Arg | |
| XM_017018001.1:c.-383T>C | XP_016873490.1:n.-383T>C | |
| XM_017018002.1:c.-224-1470T>C | XP_016873491.1:n.-224-1470T>C | |
| XM_017018003.2:c.-391T>C | XP_016873492.1:n.-391T>C | |
| XM_017018004.1:c.-391T>C | XP_016873493.1:n.-391T>C | |
| XM_017018005.1:c.-589T>C | XP_016873494.1:n.-589T>C | |
| XM_017018006.2:c.-391T>C | XP_016873495.1:n.-391T>C | |
| NM_017547.4:c.148T>C MANE Select | NP_060017.1:p.Cys50Arg | |
| NR_037647.2:n.139-1470T>C | ||
| NR_037648.2:n.325T>C |