|
ENST00000682424.1:c.565T>C
|
ENSP00000507321.1:p.Cys189Arg
|
|
|
ENST00000299427.12:c.679T>C
MANE Select
|
ENSP00000299427.6:p.Cys227Arg
|
|
|
ENST00000436873.7:c.312+318T>C
|
|
|
|
ENST00000524788.2:n.1838T>C
|
|
|
|
ENST00000524903.2:n.1954T>C
|
|
|
|
ENST00000528807.2:n.335T>C
|
|
|
|
ENST00000530040.2:n.479+376T>C
|
|
|
|
ENST00000533371.6:c.-51T>C
|
ENSP00000437066.1:n.-51T>C
|
|
|
ENST00000534644.6:n.627T>C
|
|
|
|
ENST00000642892.1:c.-51T>C
|
ENSP00000494165.1:n.-51T>C
|
|
|
ENST00000643439.1:c.*419T>C
|
ENSP00000495849.1:n.*419T>C
|
|
|
ENST00000643479.1:n.708T>C
|
|
|
|
ENST00000643516.1:c.395+318T>C
|
|
|
|
ENST00000644151.1:n.2118T>C
|
|
|
|
ENST00000644218.1:c.679T>C
|
ENSP00000493574.1:p.Cys227Arg
|
|
|
ENST00000644683.1:c.*132T>C
|
ENSP00000494085.1:n.*132T>C
|
|
|
ENST00000644810.1:c.400T>C
|
ENSP00000495895.1:p.Cys134Arg
|
|
|
ENST00000644831.1:n.855T>C
|
|
|
|
ENST00000644933.1:c.-51T>C
|
ENSP00000496133.1:n.-51T>C
|
|
|
ENST00000645020.1:n.1854T>C
|
|
|
|
ENST00000645285.1:c.-51T>C
|
ENSP00000495058.1:n.-51T>C
|
|
|
ENST00000645331.1:n.1045T>C
|
|
|
|
ENST00000645620.1:c.-51T>C
|
ENSP00000493657.1:n.-51T>C
|
|
|
ENST00000646777.1:n.855T>C
|
|
|
|
ENST00000647016.1:n.1159T>C
|
|
|
|
ENST00000647152.1:c.-51T>C
|
ENSP00000495893.1:n.-51T>C
|
|
|
ENST00000647209.1:c.*548T>C
|
ENSP00000495558.1:n.*548T>C
|
|
|
ENST00000647346.1:n.1699T>C
|
|
|
|
ENST00000299427.10:c.679T>C
|
ENSP00000299427.6:p.Cys227Arg
|
|
|
ENST00000436873.6:c.450+376T>C
|
ENSP00000398136.2:n.450+376T>C
|
|
|
ENST00000524788.1:n.379T>C
|
|
|
|
ENST00000528571.5:c.*419T>C
|
ENSP00000434647.1:n.*419T>C
|
|
|
ENST00000528807.1:n.229T>C
|
|
|
|
ENST00000533371.5:c.-51T>C
|
ENSP00000437066.1:n.-51T>C
|
|
|
ENST00000611494.4:c.679T>C
|
ENSP00000484546.1:p.Cys227Arg
|
|
|
NM_000391.3:c.679T>C
|
NP_000382.3:p.Cys227Arg
|
|
|
NM_000391.4:c.679T>C
MANE Select
|
NP_000382.3:p.Cys227Arg
|
|
