|
ENST00000366601.8:c.940G>C
|
ENSP00000355560.4:p.Glu314Gln
|
|
|
ENST00000406207.5:c.1129G>C
|
ENSP00000384571.1:p.Glu377Gln
|
|
|
ENST00000472011.6:n.1853G>C
|
|
|
|
ENST00000543662.4:c.1282G>C
|
ENSP00000439170.1:p.Glu428Gln
|
|
|
ENST00000642339.1:c.*826G>C
|
ENSP00000495425.1:n.*826G>C
|
|
|
ENST00000642431.1:c.1706G>C
|
|
|
|
ENST00000642463.1:c.*1027G>C
|
ENSP00000495007.1:n.*1027G>C
|
|
|
ENST00000642503.1:c.*903G>C
|
ENSP00000494334.1:n.*903G>C
|
|
|
ENST00000642610.2:c.1129G>C
MANE Select
|
ENSP00000494796.1:p.Glu377Gln
|
|
|
ENST00000642764.1:n.1960G>C
|
|
|
|
ENST00000643125.1:c.*144G>C
|
ENSP00000494102.1:n.*144G>C
|
|
|
ENST00000643142.1:c.*620G>C
|
ENSP00000494755.1:n.*620G>C
|
|
|
ENST00000643238.1:c.*149G>C
|
ENSP00000495916.1:n.*149G>C
|
|
|
ENST00000643410.1:c.*419G>C
|
ENSP00000495030.1:n.*419G>C
|
|
|
ENST00000643487.1:n.1816G>C
|
|
|
|
ENST00000643524.1:c.*714G>C
|
ENSP00000494026.1:n.*714G>C
|
|
|
ENST00000643615.1:c.*1116+1307G>C
|
ENSP00000496103.1:n.*1116+1307G>C
|
|
|
ENST00000643993.1:n.1265G>C
|
|
|
|
ENST00000643994.1:c.*1129G>C
|
ENSP00000496322.1:n.*1129G>C
|
|
|
ENST00000644037.1:c.*1339G>C
|
ENSP00000496408.1:n.*1339G>C
|
|
|
ENST00000644055.1:c.*1754G>C
|
ENSP00000496307.1:n.*1754G>C
|
|
|
ENST00000644126.1:n.2801G>C
|
|
|
|
ENST00000644217.1:c.1129G>C
|
ENSP00000494646.1:p.Glu377Gln
|
|
|
ENST00000644265.1:c.498G>C
|
|
|
|
ENST00000644578.1:c.943G>C
|
ENSP00000495953.1:p.Glu315Gln
|
|
|
ENST00000644604.1:c.1129G>C
|
ENSP00000495961.1:p.Glu377Gln
|
|
|
ENST00000644680.1:c.*1650G>C
|
ENSP00000496173.1:n.*1650G>C
|
|
|
ENST00000644838.1:c.*512G>C
|
ENSP00000495910.1:n.*512G>C
|
|
|
ENST00000644910.1:c.1736G>C
|
|
|
|
ENST00000645205.1:c.1129G>C
|
ENSP00000495823.1:p.Glu377Gln
|
|
|
ENST00000645351.1:c.1129G>C
|
ENSP00000494319.1:p.Glu377Gln
|
|
|
ENST00000645551.1:c.*846G>C
|
ENSP00000495928.1:n.*846G>C
|
|
|
ENST00000645578.1:c.*903G>C
|
ENSP00000496495.1:n.*903G>C
|
|
|
ENST00000645582.1:c.*959G>C
|
ENSP00000494980.1:n.*959G>C
|
|
|
ENST00000645655.1:c.1129G>C
|
ENSP00000495202.1:p.Glu377Gln
|
|
|
ENST00000645662.1:c.*588G>C
|
ENSP00000495964.1:n.*588G>C
|
|
|
ENST00000645836.1:c.*903G>C
|
ENSP00000493915.1:n.*903G>C
|
|
|
ENST00000645899.1:c.1129G>C
|
ENSP00000496773.1:p.Glu377Gln
|
|
|
ENST00000645964.1:c.*995G>C
|
ENSP00000494208.1:n.*995G>C
|
|
|
ENST00000646104.1:c.*1597G>C
|
ENSP00000495475.1:n.*1597G>C
|
|
|
ENST00000646186.1:c.*801G>C
|
ENSP00000493806.1:n.*801G>C
|
|
|
ENST00000646286.1:c.*1022G>C
|
ENSP00000494291.1:n.*1022G>C
|
|
|
ENST00000646463.1:c.*894G>C
|
ENSP00000494541.1:n.*894G>C
|
|
|
ENST00000646528.1:c.*1845G>C
|
ENSP00000496553.1:n.*1845G>C
|
|
|
ENST00000646536.1:c.*419G>C
|
ENSP00000494801.1:n.*419G>C
|
|
|
ENST00000646624.1:c.1129G>C
|
ENSP00000494575.1:p.Glu377Gln
|
|
|
ENST00000646821.1:c.*419G>C
|
ENSP00000495257.1:n.*419G>C
|
|
|
ENST00000646842.1:n.573G>C
|
|
|
|
ENST00000646848.1:c.*344G>C
|
ENSP00000495831.1:n.*344G>C
|
|
|
ENST00000647186.1:c.1129G>C
|
ENSP00000494775.1:p.Glu377Gln
|
|
|
ENST00000647233.1:n.2109G>C
|
|
|
|
ENST00000647322.1:c.720G>C
|
|
|
|
ENST00000647418.1:c.*903G>C
|
ENSP00000493552.1:n.*903G>C
|
|
|
ENST00000647428.1:c.790G>C
|
ENSP00000495630.1:p.Glu264Gln
|
|
|
ENST00000651186.1:c.790G>C
|
ENSP00000498645.1:p.Glu264Gln
|
|
|
ENST00000366601.7:c.1129G>C
|
ENSP00000355560.3:p.Glu377Gln
|
|
|
ENST00000406207.4:c.1129G>C
|
ENSP00000384571.1:p.Glu377Gln
|
|
|
ENST00000472011.5:n.1181G>C
|
|
|
|
ENST00000543662.3:c.1282G>C
|
ENSP00000439170.1:p.Glu428Gln
|
|
|
NM_001079515.2:c.1129G>C
|
NP_001072983.1:p.Glu377Gln
|
|
|
NM_001287801.1:c.1282G>C
|
NP_001274730.1:p.Glu428Gln
|
|
|
NM_001287802.1:c.790G>C
|
NP_001274731.1:p.Glu264Gln
|
|
|
NM_003193.4:c.1129G>C
|
NP_003184.1:p.Glu377Gln
|
|
|
NM_003193.5:c.1129G>C
MANE Select
|
NP_003184.1:p.Glu377Gln
|
|
|
NM_001079515.3:c.1129G>C
|
NP_001072983.1:p.Glu377Gln
|
|
|
NM_001287801.2:c.1282G>C
|
NP_001274730.1:p.Glu428Gln
|
|
|
NM_001287802.2:c.790G>C
|
NP_001274731.1:p.Glu264Gln
|
|
