|
ENST00000366601.8:c.1027A>C
|
ENSP00000355560.4:p.Arg343=
|
|
|
ENST00000406207.5:c.1216A>C
|
ENSP00000384571.1:p.Arg406=
|
|
|
ENST00000472011.6:n.1940A>C
|
|
|
|
ENST00000543662.4:c.1369A>C
|
ENSP00000439170.1:p.Arg457=
|
|
|
ENST00000642339.1:c.*913A>C
|
ENSP00000495425.1:n.*913A>C
|
|
|
ENST00000642431.1:c.1793A>C
|
|
|
|
ENST00000642463.1:c.*1114A>C
|
ENSP00000495007.1:n.*1114A>C
|
|
|
ENST00000642503.1:c.*990A>C
|
ENSP00000494334.1:n.*990A>C
|
|
|
ENST00000642610.2:c.1216A>C
MANE Select
|
ENSP00000494796.1:p.Arg406=
|
|
|
ENST00000642764.1:n.2047A>C
|
|
|
|
ENST00000643125.1:c.*231A>C
|
ENSP00000494102.1:n.*231A>C
|
|
|
ENST00000643142.1:c.*707A>C
|
ENSP00000494755.1:n.*707A>C
|
|
|
ENST00000643238.1:c.*236A>C
|
ENSP00000495916.1:n.*236A>C
|
|
|
ENST00000643410.1:c.*506A>C
|
ENSP00000495030.1:n.*506A>C
|
|
|
ENST00000643487.1:n.1903A>C
|
|
|
|
ENST00000643524.1:c.*801A>C
|
ENSP00000494026.1:n.*801A>C
|
|
|
ENST00000643615.1:c.*1116+1394A>C
|
ENSP00000496103.1:n.*1116+1394A>C
|
|
|
ENST00000643993.1:n.1352A>C
|
|
|
|
ENST00000643994.1:c.*1216A>C
|
ENSP00000496322.1:n.*1216A>C
|
|
|
ENST00000644037.1:c.*1426A>C
|
ENSP00000496408.1:n.*1426A>C
|
|
|
ENST00000644055.1:c.*1841A>C
|
ENSP00000496307.1:n.*1841A>C
|
|
|
ENST00000644126.1:n.2888A>C
|
|
|
|
ENST00000644217.1:c.1216A>C
|
ENSP00000494646.1:p.Arg406=
|
|
|
ENST00000644265.1:c.585A>C
|
|
|
|
ENST00000644578.1:c.1030A>C
|
ENSP00000495953.1:p.Arg344=
|
|
|
ENST00000644604.1:c.1216A>C
|
ENSP00000495961.1:p.Arg406=
|
|
|
ENST00000644680.1:c.*1737A>C
|
ENSP00000496173.1:n.*1737A>C
|
|
|
ENST00000644838.1:c.*599A>C
|
ENSP00000495910.1:n.*599A>C
|
|
|
ENST00000644910.1:c.1823A>C
|
|
|
|
ENST00000645205.1:c.1216A>C
|
ENSP00000495823.1:p.Arg406=
|
|
|
ENST00000645351.1:c.1216A>C
|
ENSP00000494319.1:p.Arg406=
|
|
|
ENST00000645551.1:c.*933A>C
|
ENSP00000495928.1:n.*933A>C
|
|
|
ENST00000645578.1:c.*990A>C
|
ENSP00000496495.1:n.*990A>C
|
|
|
ENST00000645582.1:c.*1046A>C
|
ENSP00000494980.1:n.*1046A>C
|
|
|
ENST00000645655.1:c.1216A>C
|
ENSP00000495202.1:p.Arg406=
|
|
|
ENST00000645662.1:c.*675A>C
|
ENSP00000495964.1:n.*675A>C
|
|
|
ENST00000645836.1:c.*990A>C
|
ENSP00000493915.1:n.*990A>C
|
|
|
ENST00000645899.1:c.1216A>C
|
ENSP00000496773.1:p.Arg406=
|
|
|
ENST00000645964.1:c.*1082A>C
|
ENSP00000494208.1:n.*1082A>C
|
|
|
ENST00000646104.1:c.*1684A>C
|
ENSP00000495475.1:n.*1684A>C
|
|
|
ENST00000646186.1:c.*888A>C
|
ENSP00000493806.1:n.*888A>C
|
|
|
ENST00000646286.1:c.*1109A>C
|
ENSP00000494291.1:n.*1109A>C
|
|
|
ENST00000646463.1:c.*981A>C
|
ENSP00000494541.1:n.*981A>C
|
|
|
ENST00000646528.1:c.*1932A>C
|
ENSP00000496553.1:n.*1932A>C
|
|
|
ENST00000646536.1:c.*506A>C
|
ENSP00000494801.1:n.*506A>C
|
|
|
ENST00000646624.1:c.1216A>C
|
ENSP00000494575.1:p.Arg406=
|
|
|
ENST00000646821.1:c.*506A>C
|
ENSP00000495257.1:n.*506A>C
|
|
|
ENST00000646842.1:n.660A>C
|
|
|
|
ENST00000646848.1:c.*431A>C
|
ENSP00000495831.1:n.*431A>C
|
|
|
ENST00000647186.1:c.1216A>C
|
ENSP00000494775.1:p.Arg406=
|
|
|
ENST00000647233.1:n.2196A>C
|
|
|
|
ENST00000647322.1:c.807A>C
|
|
|
|
ENST00000647418.1:c.*990A>C
|
ENSP00000493552.1:n.*990A>C
|
|
|
ENST00000647428.1:c.877A>C
|
ENSP00000495630.1:p.Arg293=
|
|
|
ENST00000651186.1:c.877A>C
|
ENSP00000498645.1:p.Arg293=
|
|
|
ENST00000366601.7:c.1216A>C
|
ENSP00000355560.3:p.Arg406=
|
|
|
ENST00000406207.4:c.1216A>C
|
ENSP00000384571.1:p.Arg406=
|
|
|
ENST00000472011.5:n.1268A>C
|
|
|
|
ENST00000543662.3:c.1369A>C
|
ENSP00000439170.1:p.Arg457=
|
|
|
NM_001079515.2:c.1216A>C
|
NP_001072983.1:p.Arg406=
|
|
|
NM_001287801.1:c.1369A>C
|
NP_001274730.1:p.Arg457=
|
|
|
NM_001287802.1:c.877A>C
|
NP_001274731.1:p.Arg293=
|
|
|
NM_003193.4:c.1216A>C
|
NP_003184.1:p.Arg406=
|
|
|
NM_003193.5:c.1216A>C
MANE Select
|
NP_003184.1:p.Arg406=
|
|
|
NM_001079515.3:c.1216A>C
|
NP_001072983.1:p.Arg406=
|
|
|
NM_001287801.2:c.1369A>C
|
NP_001274730.1:p.Arg457=
|
|
|
NM_001287802.2:c.877A>C
|
NP_001274731.1:p.Arg293=
|
|
