|
ENST00000509514.6:c.597G>T
|
ENSP00000426272.2:p.Arg199=
|
|
|
ENST00000518349.6:c.113-17547G>T
|
ENSP00000507185.1:n.113-17547G>T
|
|
|
ENST00000682445.1:c.*478G>T
|
ENSP00000508061.1:n.*478G>T
|
|
|
ENST00000682531.1:n.698G>T
|
|
|
|
ENST00000682626.1:c.*103G>T
|
ENSP00000507857.1:n.*103G>T
|
|
|
ENST00000682996.1:c.597G>T
|
ENSP00000507792.1:p.Arg199=
|
|
|
ENST00000683265.1:n.690G>T
|
|
|
|
ENST00000683371.1:c.*727G>T
|
ENSP00000508376.1:n.*727G>T
|
|
|
ENST00000683390.1:n.2287G>T
|
|
|
|
ENST00000683549.1:n.518G>T
|
|
|
|
ENST00000683936.1:c.*482G>T
|
ENSP00000507721.1:n.*482G>T
|
|
|
ENST00000683974.1:n.679G>T
|
|
|
|
ENST00000683996.1:c.186G>T
|
ENSP00000507060.1:p.Arg62=
|
|
|
ENST00000684131.1:n.436G>T
|
|
|
|
ENST00000684160.1:c.*287G>T
|
ENSP00000507821.1:n.*287G>T
|
|
|
ENST00000684214.1:c.597G>T
|
ENSP00000508071.1:p.Arg199=
|
|
|
ENST00000414835.7:c.672G>T
|
ENSP00000411960.3:p.Arg224=
|
|
|
ENST00000510025.7:c.597G>T
MANE Select
|
ENSP00000424940.3:p.Arg199=
|
|
|
ENST00000643250.1:c.*469G>T
|
ENSP00000494737.1:n.*469G>T
|
|
|
ENST00000644146.1:c.*175G>T
|
ENSP00000494808.1:n.*175G>T
|
|
|
ENST00000645099.1:c.156G>T
|
ENSP00000496091.1:p.Arg52=
|
|
|
ENST00000645702.1:c.186G>T
|
ENSP00000496432.1:p.Arg62=
|
|
|
ENST00000645832.1:c.*482G>T
|
ENSP00000494316.1:n.*482G>T
|
|
|
ENST00000646058.1:c.597G>T
|
ENSP00000493579.1:p.Arg199=
|
|
|
ENST00000646355.1:c.*603G>T
|
ENSP00000493801.1:n.*603G>T
|
|
|
ENST00000646554.1:c.*575G>T
|
ENSP00000494542.1:n.*575G>T
|
|
|
ENST00000647335.1:c.*564G>T
|
ENSP00000495180.1:n.*564G>T
|
|
|
ENST00000647342.1:c.*528G>T
|
ENSP00000494992.1:n.*528G>T
|
|
|
ENST00000256216.10:c.597G>T
|
ENSP00000256216.6:p.Arg199=
|
|
|
ENST00000414835.6:c.177G>T
|
ENSP00000411960.2:p.Arg59=
|
|
|
ENST00000442060.7:c.597G>T
|
ENSP00000390208.3:p.Arg199=
|
|
|
ENST00000503168.5:n.586G>T
|
|
|
|
ENST00000504811.5:c.672G>T
|
ENSP00000420914.1:p.Arg224=
|
|
|
ENST00000505181.5:n.300G>T
|
|
|
|
ENST00000509514.5:c.-288G>T
|
ENSP00000426272.1:n.-288G>T
|
|
|
ENST00000510025.5:c.525G>T
|
ENSP00000424940.1:p.Arg175=
|
|
|
ENST00000512644.1:n.165G>T
|
|
|
|
ENST00000513628.5:c.186G>T
|
ENSP00000425993.1:p.Arg62=
|
|
|
ENST00000515235.6:n.657G>T
|
|
|
|
ENST00000515320.5:c.543G>T
|
ENSP00000424613.1:p.Arg181=
|
|
|
NM_000414.3:c.597G>T
|
NP_000405.1:p.Arg199=
|
|
|
NM_001199291.2:c.672G>T
|
NP_001186220.1:p.Arg224=
|
|
|
NM_001199292.1:c.543G>T
|
NP_001186221.1:p.Arg181=
|
|
|
NM_001292027.1:c.525G>T
|
NP_001278956.1:p.Arg175=
|
|
|
NM_001292028.1:c.177G>T
|
NP_001278957.1:p.Arg59=
|
|
|
NM_000414.4:c.597G>T
MANE Select
|
NP_000405.1:p.Arg199=
|
|
|
NM_001199291.3:c.672G>T
|
NP_001186220.1:p.Arg224=
|
|
|
NM_001199292.2:c.543G>T
|
NP_001186221.1:p.Arg181=
|
|
|
NM_001292027.2:c.525G>T
|
NP_001278956.1:p.Arg175=
|
|
|
NM_001292028.2:c.177G>T
|
NP_001278957.1:p.Arg59=
|
|
|
NM_001374497.1:c.588G>T
|
NP_001361426.1:p.Arg196=
|
|
|
NM_001374498.1:c.597G>T
|
NP_001361427.1:p.Arg199=
|
|
|
NM_001374499.1:c.270G>T
|
NP_001361428.1:p.Arg90=
|
|
|
NM_001374500.1:c.156G>T
|
NP_001361429.1:p.Arg52=
|
|
|
NM_001374501.1:c.186G>T
|
NP_001361430.1:p.Arg62=
|
|
|
NM_001374502.1:c.186G>T
|
NP_001361431.1:p.Arg62=
|
|
|
NM_001374503.1:c.186G>T
|
NP_001361432.1:p.Arg62=
|
|
|
NR_164653.1:n.676G>T
|
|
|
|
NR_164654.1:n.864G>T
|
|
|
