|
ENST00000509514.6:c.1432C>A
|
ENSP00000426272.2:p.Gln478Lys
|
|
|
ENST00000518349.6:c.745C>A
|
ENSP00000507185.1:p.Gln249Lys
|
|
|
ENST00000520244.6:n.3239C>A
|
|
|
|
ENST00000682445.1:c.*1382C>A
|
ENSP00000508061.1:n.*1382C>A
|
|
|
ENST00000682531.1:n.3393C>A
|
|
|
|
ENST00000682626.1:c.*1007C>A
|
ENSP00000507857.1:n.*1007C>A
|
|
|
ENST00000682996.1:c.1429C>A
|
ENSP00000507792.1:p.Gln477Lys
|
|
|
ENST00000683265.1:n.3287C>A
|
|
|
|
ENST00000683335.1:n.2903C>A
|
|
|
|
ENST00000683371.1:c.*1631C>A
|
ENSP00000508376.1:n.*1631C>A
|
|
|
ENST00000683372.1:n.3511C>A
|
|
|
|
ENST00000683390.1:n.3191C>A
|
|
|
|
ENST00000683549.1:n.3115C>A
|
|
|
|
ENST00000683936.1:c.*3079C>A
|
ENSP00000507721.1:n.*3079C>A
|
|
|
ENST00000683974.1:n.3230C>A
|
|
|
|
ENST00000683996.1:c.*711C>A
|
ENSP00000507060.1:n.*711C>A
|
|
|
ENST00000684131.1:n.3033C>A
|
|
|
|
ENST00000684160.1:c.*1191C>A
|
ENSP00000507821.1:n.*1191C>A
|
|
|
ENST00000684214.1:c.1501C>A
|
ENSP00000508071.1:p.Gln501Lys
|
|
|
ENST00000414835.7:c.1576C>A
|
ENSP00000411960.3:p.Gln526Lys
|
|
|
ENST00000510025.7:c.1501C>A
MANE Select
|
ENSP00000424940.3:p.Gln501Lys
|
|
|
ENST00000643250.1:c.*1373C>A
|
ENSP00000494737.1:n.*1373C>A
|
|
|
ENST00000644146.1:c.*2772C>A
|
ENSP00000494808.1:n.*2772C>A
|
|
|
ENST00000645099.1:c.1060C>A
|
ENSP00000496091.1:p.Gln354Lys
|
|
|
ENST00000645702.1:c.*904C>A
|
ENSP00000496432.1:n.*904C>A
|
|
|
ENST00000645832.1:c.*1386C>A
|
ENSP00000494316.1:n.*1386C>A
|
|
|
ENST00000646058.1:c.1501C>A
|
ENSP00000493579.1:p.Gln501Lys
|
|
|
ENST00000646355.1:c.*1507C>A
|
ENSP00000493801.1:n.*1507C>A
|
|
|
ENST00000646554.1:c.*1479C>A
|
ENSP00000494542.1:n.*1479C>A
|
|
|
ENST00000647335.1:c.*1468C>A
|
ENSP00000495180.1:n.*1468C>A
|
|
|
ENST00000647342.1:c.*1432C>A
|
ENSP00000494992.1:n.*1432C>A
|
|
|
ENST00000256216.10:c.1501C>A
|
ENSP00000256216.6:p.Gln501Lys
|
|
|
ENST00000414835.6:c.1081C>A
|
ENSP00000411960.2:p.Gln361Lys
|
|
|
ENST00000442060.7:c.*63C>A
|
ENSP00000390208.3:n.*63C>A
|
|
|
ENST00000504811.5:c.1576C>A
|
ENSP00000420914.1:p.Gln526Lys
|
|
|
ENST00000509514.5:c.715C>A
|
ENSP00000426272.1:p.Gln239Lys
|
|
|
ENST00000510025.5:c.1429C>A
|
ENSP00000424940.1:p.Gln477Lys
|
|
|
ENST00000513628.5:c.1090C>A
|
ENSP00000425993.1:p.Gln364Lys
|
|
|
ENST00000515235.6:n.3254C>A
|
|
|
|
ENST00000515320.5:c.1447C>A
|
ENSP00000424613.1:p.Gln483Lys
|
|
|
ENST00000518349.5:n.635C>A
|
|
|
|
ENST00000520244.5:n.284C>A
|
|
|
|
ENST00000522415.5:n.168C>A
|
|
|
|
NM_000414.3:c.1501C>A
|
NP_000405.1:p.Gln501Lys
|
|
|
NM_001199291.2:c.1576C>A
|
NP_001186220.1:p.Gln526Lys
|
|
|
NM_001199292.1:c.1447C>A
|
NP_001186221.1:p.Gln483Lys
|
|
|
NM_001292027.1:c.1429C>A
|
NP_001278956.1:p.Gln477Lys
|
|
|
NM_001292028.1:c.1081C>A
|
NP_001278957.1:p.Gln361Lys
|
|
|
NM_000414.4:c.1501C>A
MANE Select
|
NP_000405.1:p.Gln501Lys
|
|
|
NM_001199291.3:c.1576C>A
|
NP_001186220.1:p.Gln526Lys
|
|
|
NM_001199292.2:c.1447C>A
|
NP_001186221.1:p.Gln483Lys
|
|
|
NM_001292027.2:c.1429C>A
|
NP_001278956.1:p.Gln477Lys
|
|
|
NM_001292028.2:c.1081C>A
|
NP_001278957.1:p.Gln361Lys
|
|
|
NM_001374497.1:c.1492C>A
|
NP_001361426.1:p.Gln498Lys
|
|
|
NM_001374498.1:c.1429C>A
|
NP_001361427.1:p.Gln477Lys
|
|
|
NM_001374499.1:c.1174C>A
|
NP_001361428.1:p.Gln392Lys
|
|
|
NM_001374500.1:c.1060C>A
|
NP_001361429.1:p.Gln354Lys
|
|
|
NM_001374501.1:c.1090C>A
|
NP_001361430.1:p.Gln364Lys
|
|
|
NM_001374502.1:c.1090C>A
|
NP_001361431.1:p.Gln364Lys
|
|
|
NM_001374503.1:c.1090C>A
|
NP_001361432.1:p.Gln364Lys
|
|
|
NR_164653.1:n.1598C>A
|
|
|
|
NR_164654.1:n.1866C>A
|
|
|
