|
ENST00000509514.6:c.567T>C
|
ENSP00000426272.2:p.Cys189=
|
|
|
ENST00000518349.6:c.113-17577T>C
|
ENSP00000507185.1:n.113-17577T>C
|
|
|
ENST00000682445.1:c.*448T>C
|
ENSP00000508061.1:n.*448T>C
|
|
|
ENST00000682531.1:n.668T>C
|
|
|
|
ENST00000682626.1:c.*73T>C
|
ENSP00000507857.1:n.*73T>C
|
|
|
ENST00000682996.1:c.567T>C
|
ENSP00000507792.1:p.Cys189=
|
|
|
ENST00000683265.1:n.660T>C
|
|
|
|
ENST00000683371.1:c.*697T>C
|
ENSP00000508376.1:n.*697T>C
|
|
|
ENST00000683390.1:n.2257T>C
|
|
|
|
ENST00000683549.1:n.488T>C
|
|
|
|
ENST00000683936.1:c.*452T>C
|
ENSP00000507721.1:n.*452T>C
|
|
|
ENST00000683974.1:n.649T>C
|
|
|
|
ENST00000683996.1:c.156T>C
|
ENSP00000507060.1:p.Cys52=
|
|
|
ENST00000684131.1:n.406T>C
|
|
|
|
ENST00000684160.1:c.*257T>C
|
ENSP00000507821.1:n.*257T>C
|
|
|
ENST00000684214.1:c.567T>C
|
ENSP00000508071.1:p.Cys189=
|
|
|
ENST00000414835.7:c.642T>C
|
ENSP00000411960.3:p.Cys214=
|
|
|
ENST00000510025.7:c.567T>C
MANE Select
|
ENSP00000424940.3:p.Cys189=
|
|
|
ENST00000643250.1:c.*439T>C
|
ENSP00000494737.1:n.*439T>C
|
|
|
ENST00000644146.1:c.*145T>C
|
ENSP00000494808.1:n.*145T>C
|
|
|
ENST00000645099.1:c.126T>C
|
ENSP00000496091.1:p.Cys42=
|
|
|
ENST00000645702.1:c.156T>C
|
ENSP00000496432.1:p.Cys52=
|
|
|
ENST00000645832.1:c.*452T>C
|
ENSP00000494316.1:n.*452T>C
|
|
|
ENST00000646058.1:c.567T>C
|
ENSP00000493579.1:p.Cys189=
|
|
|
ENST00000646355.1:c.*573T>C
|
ENSP00000493801.1:n.*573T>C
|
|
|
ENST00000646554.1:c.*545T>C
|
ENSP00000494542.1:n.*545T>C
|
|
|
ENST00000647335.1:c.*534T>C
|
ENSP00000495180.1:n.*534T>C
|
|
|
ENST00000647342.1:c.*498T>C
|
ENSP00000494992.1:n.*498T>C
|
|
|
ENST00000256216.10:c.567T>C
|
ENSP00000256216.6:p.Cys189=
|
|
|
ENST00000414835.6:c.147T>C
|
ENSP00000411960.2:p.Cys49=
|
|
|
ENST00000442060.7:c.567T>C
|
ENSP00000390208.3:p.Cys189=
|
|
|
ENST00000503168.5:n.556T>C
|
|
|
|
ENST00000504811.5:c.642T>C
|
ENSP00000420914.1:p.Cys214=
|
|
|
ENST00000505181.5:n.270T>C
|
|
|
|
ENST00000509514.5:c.-318T>C
|
ENSP00000426272.1:n.-318T>C
|
|
|
ENST00000510025.5:c.495T>C
|
ENSP00000424940.1:p.Cys165=
|
|
|
ENST00000512644.1:n.135T>C
|
|
|
|
ENST00000513628.5:c.156T>C
|
ENSP00000425993.1:p.Cys52=
|
|
|
ENST00000515235.6:n.627T>C
|
|
|
|
ENST00000515320.5:c.513T>C
|
ENSP00000424613.1:p.Cys171=
|
|
|
NM_000414.3:c.567T>C
|
NP_000405.1:p.Cys189=
|
|
|
NM_001199291.2:c.642T>C
|
NP_001186220.1:p.Cys214=
|
|
|
NM_001199292.1:c.513T>C
|
NP_001186221.1:p.Cys171=
|
|
|
NM_001292027.1:c.495T>C
|
NP_001278956.1:p.Cys165=
|
|
|
NM_001292028.1:c.147T>C
|
NP_001278957.1:p.Cys49=
|
|
|
NM_000414.4:c.567T>C
MANE Select
|
NP_000405.1:p.Cys189=
|
|
|
NM_001199291.3:c.642T>C
|
NP_001186220.1:p.Cys214=
|
|
|
NM_001199292.2:c.513T>C
|
NP_001186221.1:p.Cys171=
|
|
|
NM_001292027.2:c.495T>C
|
NP_001278956.1:p.Cys165=
|
|
|
NM_001292028.2:c.147T>C
|
NP_001278957.1:p.Cys49=
|
|
|
NM_001374497.1:c.558T>C
|
NP_001361426.1:p.Cys186=
|
|
|
NM_001374498.1:c.567T>C
|
NP_001361427.1:p.Cys189=
|
|
|
NM_001374499.1:c.240T>C
|
NP_001361428.1:p.Cys80=
|
|
|
NM_001374500.1:c.126T>C
|
NP_001361429.1:p.Cys42=
|
|
|
NM_001374501.1:c.156T>C
|
NP_001361430.1:p.Cys52=
|
|
|
NM_001374502.1:c.156T>C
|
NP_001361431.1:p.Cys52=
|
|
|
NM_001374503.1:c.156T>C
|
NP_001361432.1:p.Cys52=
|
|
|
NR_164653.1:n.646T>C
|
|
|
|
NR_164654.1:n.834T>C
|
|
|
