|
ENST00000245414.9:c.942G>T
MANE Select
|
ENSP00000245414.4:p.Arg314=
|
|
|
ENST00000638452.2:c.-169+34298C>A
|
ENSP00000492349.2:n.-169+34298C>A
|
|
|
ENST00000638504.1:n.206+64047C>A
|
|
|
|
ENST00000638568.2:c.-311+34298C>A
|
ENSP00000491158.2:n.-311+34298C>A
|
|
|
ENST00000639899.1:n.289+34298C>A
|
|
|
|
ENST00000640655.2:c.-637-2205C>A
|
ENSP00000491596.2:n.-637-2205C>A
|
|
|
ENST00000679743.1:c.563G>T
|
ENSP00000505257.1:n.563G>T
|
|
|
ENST00000679786.1:n.130+2570G>T
|
|
|
|
ENST00000679860.1:c.230G>T
|
|
|
|
ENST00000679921.1:c.292+2570G>T
|
ENSP00000505766.1:n.292+2570G>T
|
|
|
ENST00000679945.1:n.130+2570G>T
|
|
|
|
ENST00000679964.1:n.50+1680G>T
|
|
|
|
ENST00000680139.1:c.756G>T
|
ENSP00000506148.1:p.Arg252=
|
|
|
ENST00000680380.1:n.136+375G>T
|
|
|
|
ENST00000680562.1:c.390G>T
|
ENSP00000505853.1:p.Arg130=
|
|
|
ENST00000680594.1:n.136+375G>T
|
|
|
|
ENST00000680903.1:c.819G>T
|
ENSP00000505720.1:p.Arg273=
|
|
|
ENST00000681049.1:n.50+1680G>T
|
|
|
|
ENST00000681240.1:c.192G>T
|
ENSP00000506034.1:p.Arg64=
|
|
|
ENST00000681336.1:c.189G>T
|
ENSP00000505242.1:p.Arg63=
|
|
|
ENST00000681462.1:c.779G>T
|
|
|
|
ENST00000681595.1:c.503G>T
|
ENSP00000506023.1:n.503G>T
|
|
|
ENST00000681634.1:n.136+375G>T
|
|
|
|
ENST00000681694.1:c.254G>T
|
ENSP00000506552.1:n.254G>T
|
|
|
ENST00000681715.1:c.440G>T
|
ENSP00000506545.1:n.440G>T
|
|
|
ENST00000245414.8:c.942G>T
|
ENSP00000245414.4:p.Arg314=
|
|
|
ENST00000405885.6:c.942G>T
|
ENSP00000384406.1:p.Arg314=
|
|
|
ENST00000472045.1:n.4251G>T
|
|
|
|
NM_002198.2:c.942G>T
|
NP_002189.1:p.Arg314=
|
|
|
XM_011543378.1:c.819G>T
|
XP_011541680.1:p.Arg273=
|
|
|
XM_011543379.1:c.690G>T
|
XP_011541681.1:p.Arg230=
|
|
|
XR_427711.2:n.1003G>T
|
|
|
|
NM_001354924.1:c.819G>T
|
NP_001341853.1:p.Arg273=
|
|
|
NM_001354925.1:c.756G>T
|
NP_001341854.1:p.Arg252=
|
|
|
NR_149068.1:n.1003G>T
|
|
|
|
XM_011543379.2:c.690G>T
|
XP_011541681.1:p.Arg230=
|
|
|
NM_002198.3:c.942G>T
MANE Select
|
NP_002189.1:p.Arg314=
|
|
