|
ENST00000509514.6:c.1390A>C
|
ENSP00000426272.2:p.Arg464=
|
|
|
ENST00000518349.6:c.703A>C
|
ENSP00000507185.1:p.Arg235=
|
|
|
ENST00000520244.6:n.3197A>C
|
|
|
|
ENST00000682445.1:c.*1340A>C
|
ENSP00000508061.1:n.*1340A>C
|
|
|
ENST00000682531.1:n.3351A>C
|
|
|
|
ENST00000682626.1:c.*965A>C
|
ENSP00000507857.1:n.*965A>C
|
|
|
ENST00000682996.1:c.1387A>C
|
ENSP00000507792.1:p.Arg463=
|
|
|
ENST00000683265.1:n.3245A>C
|
|
|
|
ENST00000683335.1:n.2861A>C
|
|
|
|
ENST00000683371.1:c.*1589A>C
|
ENSP00000508376.1:n.*1589A>C
|
|
|
ENST00000683372.1:n.3469A>C
|
|
|
|
ENST00000683390.1:n.3149A>C
|
|
|
|
ENST00000683549.1:n.3073A>C
|
|
|
|
ENST00000683936.1:c.*3037A>C
|
ENSP00000507721.1:n.*3037A>C
|
|
|
ENST00000683974.1:n.3213-25A>C
|
|
|
|
ENST00000683996.1:c.*669A>C
|
ENSP00000507060.1:n.*669A>C
|
|
|
ENST00000684131.1:n.2991A>C
|
|
|
|
ENST00000684160.1:c.*1149A>C
|
ENSP00000507821.1:n.*1149A>C
|
|
|
ENST00000684214.1:c.1459A>C
|
ENSP00000508071.1:p.Arg487=
|
|
|
ENST00000414835.7:c.1534A>C
|
ENSP00000411960.3:p.Arg512=
|
|
|
ENST00000510025.7:c.1459A>C
MANE Select
|
ENSP00000424940.3:p.Arg487=
|
|
|
ENST00000643250.1:c.*1331A>C
|
ENSP00000494737.1:n.*1331A>C
|
|
|
ENST00000644146.1:c.*2730A>C
|
ENSP00000494808.1:n.*2730A>C
|
|
|
ENST00000645099.1:c.1018A>C
|
ENSP00000496091.1:p.Arg340=
|
|
|
ENST00000645702.1:c.*862A>C
|
ENSP00000496432.1:n.*862A>C
|
|
|
ENST00000645832.1:c.*1344A>C
|
ENSP00000494316.1:n.*1344A>C
|
|
|
ENST00000646058.1:c.1459A>C
|
ENSP00000493579.1:p.Arg487=
|
|
|
ENST00000646355.1:c.*1465A>C
|
ENSP00000493801.1:n.*1465A>C
|
|
|
ENST00000646554.1:c.*1437A>C
|
ENSP00000494542.1:n.*1437A>C
|
|
|
ENST00000647335.1:c.*1426A>C
|
ENSP00000495180.1:n.*1426A>C
|
|
|
ENST00000647342.1:c.*1390A>C
|
ENSP00000494992.1:n.*1390A>C
|
|
|
ENST00000256216.10:c.1459A>C
|
ENSP00000256216.6:p.Arg487=
|
|
|
ENST00000414835.6:c.1039A>C
|
ENSP00000411960.2:p.Arg347=
|
|
|
ENST00000442060.7:c.*21A>C
|
ENSP00000390208.3:n.*21A>C
|
|
|
ENST00000504811.5:c.1534A>C
|
ENSP00000420914.1:p.Arg512=
|
|
|
ENST00000509514.5:c.673A>C
|
ENSP00000426272.1:p.Arg225=
|
|
|
ENST00000510025.5:c.1387A>C
|
ENSP00000424940.1:p.Arg463=
|
|
|
ENST00000513628.5:c.1048A>C
|
ENSP00000425993.1:p.Arg350=
|
|
|
ENST00000515235.6:n.3212A>C
|
|
|
|
ENST00000515320.5:c.1405A>C
|
ENSP00000424613.1:p.Arg469=
|
|
|
ENST00000518349.5:n.593A>C
|
|
|
|
ENST00000520244.5:n.242A>C
|
|
|
|
ENST00000522415.5:n.126A>C
|
|
|
|
NM_000414.3:c.1459A>C
|
NP_000405.1:p.Arg487=
|
|
|
NM_001199291.2:c.1534A>C
|
NP_001186220.1:p.Arg512=
|
|
|
NM_001199292.1:c.1405A>C
|
NP_001186221.1:p.Arg469=
|
|
|
NM_001292027.1:c.1387A>C
|
NP_001278956.1:p.Arg463=
|
|
|
NM_001292028.1:c.1039A>C
|
NP_001278957.1:p.Arg347=
|
|
|
NM_000414.4:c.1459A>C
MANE Select
|
NP_000405.1:p.Arg487=
|
|
|
NM_001199291.3:c.1534A>C
|
NP_001186220.1:p.Arg512=
|
|
|
NM_001199292.2:c.1405A>C
|
NP_001186221.1:p.Arg469=
|
|
|
NM_001292027.2:c.1387A>C
|
NP_001278956.1:p.Arg463=
|
|
|
NM_001292028.2:c.1039A>C
|
NP_001278957.1:p.Arg347=
|
|
|
NM_001374497.1:c.1450A>C
|
NP_001361426.1:p.Arg484=
|
|
|
NM_001374498.1:c.1387A>C
|
NP_001361427.1:p.Arg463=
|
|
|
NM_001374499.1:c.1132A>C
|
NP_001361428.1:p.Arg378=
|
|
|
NM_001374500.1:c.1018A>C
|
NP_001361429.1:p.Arg340=
|
|
|
NM_001374501.1:c.1048A>C
|
NP_001361430.1:p.Arg350=
|
|
|
NM_001374502.1:c.1048A>C
|
NP_001361431.1:p.Arg350=
|
|
|
NM_001374503.1:c.1048A>C
|
NP_001361432.1:p.Arg350=
|
|
|
NR_164653.1:n.1556A>C
|
|
|
|
NR_164654.1:n.1824A>C
|
|
|
