ENST00000682424.1:c.757G>T
|
ENSP00000507321.1:p.Val253Phe
|
|
ENST00000299427.12:c.871G>T
MANE Select
|
ENSP00000299427.6:p.Val291Phe
|
|
ENST00000436873.7:c.313-602G>T
|
|
|
ENST00000524788.2:n.2030G>T
|
|
|
ENST00000524903.2:n.2146G>T
|
|
|
ENST00000528807.2:n.527G>T
|
|
|
ENST00000530040.2:n.480-173G>T
|
|
|
ENST00000533371.6:c.142G>T
|
ENSP00000437066.1:p.Val48Phe
|
|
ENST00000642892.1:c.142G>T
|
ENSP00000494165.1:p.Val48Phe
|
|
ENST00000643439.1:c.*611G>T
|
ENSP00000495849.1:n.*611G>T
|
|
ENST00000643479.1:n.900G>T
|
|
|
ENST00000643516.1:c.396-173G>T
|
|
|
ENST00000644151.1:n.2310G>T
|
|
|
ENST00000644218.1:c.871G>T
|
ENSP00000493574.1:p.Val291Phe
|
|
ENST00000644683.1:c.*324G>T
|
ENSP00000494085.1:n.*324G>T
|
|
ENST00000644810.1:c.592G>T
|
ENSP00000495895.1:p.Val198Phe
|
|
ENST00000644831.1:n.1047G>T
|
|
|
ENST00000644933.1:c.142G>T
|
ENSP00000496133.1:p.Val48Phe
|
|
ENST00000645020.1:n.2161G>T
|
|
|
ENST00000645285.1:c.142G>T
|
ENSP00000495058.1:p.Val48Phe
|
|
ENST00000645331.1:n.1237G>T
|
|
|
ENST00000645620.1:c.142G>T
|
ENSP00000493657.1:p.Val48Phe
|
|
ENST00000646777.1:n.1047G>T
|
|
|
ENST00000647016.1:n.1351G>T
|
|
|
ENST00000647152.1:c.142G>T
|
ENSP00000495893.1:p.Val48Phe
|
|
ENST00000647209.1:c.*740G>T
|
ENSP00000495558.1:n.*740G>T
|
|
ENST00000647346.1:n.1891G>T
|
|
|
ENST00000299427.10:c.871G>T
|
ENSP00000299427.6:p.Val291Phe
|
|
ENST00000436873.6:c.451-173G>T
|
ENSP00000398136.2:n.451-173G>T
|
|
ENST00000528807.1:n.421G>T
|
|
|
ENST00000533371.5:c.142G>T
|
ENSP00000437066.1:p.Val48Phe
|
|
ENST00000611494.4:c.871G>T
|
ENSP00000484546.1:p.Val291Phe
|
|
NM_000391.3:c.871G>T
|
NP_000382.3:p.Val291Phe
|
|
NM_000391.4:c.871G>T
MANE Select
|
NP_000382.3:p.Val291Phe
|
|