|
ENST00000556892.6:c.208G>C
|
ENSP00000452206.2:p.Glu70Gln
|
|
|
ENST00000556979.6:c.*880G>C
|
ENSP00000452378.1:n.*880G>C
|
|
|
ENST00000358664.9:c.427G>C
MANE Select
|
ENSP00000351490.4:p.Glu143Gln
|
|
|
ENST00000651648.1:c.145-6163G>C
|
ENSP00000498863.1:n.145-6163G>C
|
|
|
ENST00000284165.10:c.*1271G>C
|
ENSP00000284165.6:n.*1271G>C
|
|
|
ENST00000341653.6:c.171+17176G>C
|
ENSP00000342482.2:n.171+17176G>C
|
|
|
ENST00000358402.8:c.400G>C
|
ENSP00000351175.4:p.Glu134Gln
|
|
|
ENST00000358664.8:c.427G>C
|
ENSP00000351490.4:p.Glu143Gln
|
|
|
ENST00000394606.6:c.*200G>C
|
ENSP00000378104.2:n.*200G>C
|
|
|
ENST00000553928.5:c.*216G>C
|
ENSP00000451907.1:n.*216G>C
|
|
|
ENST00000555419.5:c.319G>C
|
ENSP00000452405.1:p.Glu107Gln
|
|
|
ENST00000555932.5:c.168G>C
|
ENSP00000450763.1:p.Arg56=
|
|
|
ENST00000557277.5:c.238G>C
|
ENSP00000450955.1:p.Glu80Gln
|
|
|
ENST00000618858.4:c.*216G>C
|
ENSP00000480127.1:n.*216G>C
|
|
|
NM_001271069.1:c.144+17176G>C
|
NP_001257998.1:n.144+17176G>C
|
|
|
NM_002382.4:c.427G>C
|
NP_002373.3:p.Glu143Gln
|
|
|
NM_145112.2:c.400G>C
|
NP_660087.1:p.Glu134Gln
|
|
|
NM_145113.2:c.*216G>C
|
NP_660088.1:n.*216G>C
|
|
|
NM_197957.3:c.171+17176G>C
|
NP_932061.1:n.171+17176G>C
|
|
|
NR_073137.1:n.551G>C
|
|
|
|
XR_429315.2:n.714G>C
|
|
|
|
NM_001320415.1:c.238G>C
|
NP_001307344.1:p.Glu80Gln
|
|
|
XM_017021312.2:c.238G>C
|
XP_016876801.1:p.Glu80Gln
|
|
|
XM_017021313.1:c.238G>C
|
XP_016876802.1:p.Glu80Gln
|
|
|
XR_001750326.2:n.772G>C
|
|
|
|
XR_001750327.2:n.691G>C
|
|
|
|
XR_002957553.1:n.1205G>C
|
|
|
|
XR_943450.3:n.795G>C
|
|
|
|
XR_943451.3:n.811G>C
|
|
|
|
XR_943452.3:n.756G>C
|
|
|
|
NM_001320415.2:c.238G>C
|
NP_001307344.1:p.Glu80Gln
|
|
|
NM_002382.5:c.427G>C
MANE Select
|
NP_002373.3:p.Glu143Gln
|
|
|
NM_145112.3:c.400G>C
|
NP_660087.1:p.Glu134Gln
|
|
|
NM_145113.3:c.*216G>C
|
NP_660088.1:n.*216G>C
|
|
|
NM_001271069.2:c.144+17176G>C
|
NP_001257998.1:n.144+17176G>C
|
|
|
NM_197957.4:c.171+17176G>C
|
NP_932061.1:n.171+17176G>C
|
|
