|
ENST00000509514.6:c.550A>C
|
ENSP00000426272.2:p.Lys184Gln
|
|
|
ENST00000518349.6:c.113-17594A>C
|
ENSP00000507185.1:n.113-17594A>C
|
|
|
ENST00000682445.1:c.*431A>C
|
ENSP00000508061.1:n.*431A>C
|
|
|
ENST00000682531.1:n.651A>C
|
|
|
|
ENST00000682626.1:c.*56A>C
|
ENSP00000507857.1:n.*56A>C
|
|
|
ENST00000682996.1:c.550A>C
|
ENSP00000507792.1:p.Lys184Gln
|
|
|
ENST00000683265.1:n.643A>C
|
|
|
|
ENST00000683371.1:c.*680A>C
|
ENSP00000508376.1:n.*680A>C
|
|
|
ENST00000683390.1:n.2240A>C
|
|
|
|
ENST00000683549.1:n.471A>C
|
|
|
|
ENST00000683936.1:c.*435A>C
|
ENSP00000507721.1:n.*435A>C
|
|
|
ENST00000683974.1:n.632A>C
|
|
|
|
ENST00000683996.1:c.139A>C
|
ENSP00000507060.1:p.Lys47Gln
|
|
|
ENST00000684131.1:n.389A>C
|
|
|
|
ENST00000684160.1:c.*240A>C
|
ENSP00000507821.1:n.*240A>C
|
|
|
ENST00000684214.1:c.550A>C
|
ENSP00000508071.1:p.Lys184Gln
|
|
|
ENST00000414835.7:c.625A>C
|
ENSP00000411960.3:p.Lys209Gln
|
|
|
ENST00000510025.7:c.550A>C
MANE Select
|
ENSP00000424940.3:p.Lys184Gln
|
|
|
ENST00000643250.1:c.*422A>C
|
ENSP00000494737.1:n.*422A>C
|
|
|
ENST00000644146.1:c.*128A>C
|
ENSP00000494808.1:n.*128A>C
|
|
|
ENST00000645099.1:c.109A>C
|
ENSP00000496091.1:p.Lys37Gln
|
|
|
ENST00000645702.1:c.139A>C
|
ENSP00000496432.1:p.Lys47Gln
|
|
|
ENST00000645832.1:c.*435A>C
|
ENSP00000494316.1:n.*435A>C
|
|
|
ENST00000646058.1:c.550A>C
|
ENSP00000493579.1:p.Lys184Gln
|
|
|
ENST00000646355.1:c.*556A>C
|
ENSP00000493801.1:n.*556A>C
|
|
|
ENST00000646554.1:c.*528A>C
|
ENSP00000494542.1:n.*528A>C
|
|
|
ENST00000647335.1:c.*517A>C
|
ENSP00000495180.1:n.*517A>C
|
|
|
ENST00000647342.1:c.*481A>C
|
ENSP00000494992.1:n.*481A>C
|
|
|
ENST00000256216.10:c.550A>C
|
ENSP00000256216.6:p.Lys184Gln
|
|
|
ENST00000414835.6:c.130A>C
|
ENSP00000411960.2:p.Lys44Gln
|
|
|
ENST00000442060.7:c.550A>C
|
ENSP00000390208.3:p.Lys184Gln
|
|
|
ENST00000503168.5:n.539A>C
|
|
|
|
ENST00000504811.5:c.625A>C
|
ENSP00000420914.1:p.Lys209Gln
|
|
|
ENST00000505181.5:n.253A>C
|
|
|
|
ENST00000509514.5:c.-335A>C
|
ENSP00000426272.1:n.-335A>C
|
|
|
ENST00000510025.5:c.478A>C
|
ENSP00000424940.1:p.Lys160Gln
|
|
|
ENST00000512644.1:n.118A>C
|
|
|
|
ENST00000513628.5:c.139A>C
|
ENSP00000425993.1:p.Lys47Gln
|
|
|
ENST00000515235.6:n.610A>C
|
|
|
|
ENST00000515320.5:c.496A>C
|
ENSP00000424613.1:p.Lys166Gln
|
|
|
NM_000414.3:c.550A>C
|
NP_000405.1:p.Lys184Gln
|
|
|
NM_001199291.2:c.625A>C
|
NP_001186220.1:p.Lys209Gln
|
|
|
NM_001199292.1:c.496A>C
|
NP_001186221.1:p.Lys166Gln
|
|
|
NM_001292027.1:c.478A>C
|
NP_001278956.1:p.Lys160Gln
|
|
|
NM_001292028.1:c.130A>C
|
NP_001278957.1:p.Lys44Gln
|
|
|
NM_000414.4:c.550A>C
MANE Select
|
NP_000405.1:p.Lys184Gln
|
|
|
NM_001199291.3:c.625A>C
|
NP_001186220.1:p.Lys209Gln
|
|
|
NM_001199292.2:c.496A>C
|
NP_001186221.1:p.Lys166Gln
|
|
|
NM_001292027.2:c.478A>C
|
NP_001278956.1:p.Lys160Gln
|
|
|
NM_001292028.2:c.130A>C
|
NP_001278957.1:p.Lys44Gln
|
|
|
NM_001374497.1:c.541A>C
|
NP_001361426.1:p.Lys181Gln
|
|
|
NM_001374498.1:c.550A>C
|
NP_001361427.1:p.Lys184Gln
|
|
|
NM_001374499.1:c.223A>C
|
NP_001361428.1:p.Lys75Gln
|
|
|
NM_001374500.1:c.109A>C
|
NP_001361429.1:p.Lys37Gln
|
|
|
NM_001374501.1:c.139A>C
|
NP_001361430.1:p.Lys47Gln
|
|
|
NM_001374502.1:c.139A>C
|
NP_001361431.1:p.Lys47Gln
|
|
|
NM_001374503.1:c.139A>C
|
NP_001361432.1:p.Lys47Gln
|
|
|
NR_164653.1:n.629A>C
|
|
|
|
NR_164654.1:n.817A>C
|
|
|
