ENST00000586186.3:c.345+342G>T
|
ENSP00000468273.3:n.345+342G>T
|
|
ENST00000587405.6:c.87G>T
|
ENSP00000466478.2:p.Gln29His
|
|
ENST00000590016.6:c.504G>T
|
ENSP00000466399.1:p.Gln168His
|
|
ENST00000590631.2:n.437-543G>T
|
|
|
ENST00000592577.6:c.87G>T
|
ENSP00000466839.2:p.Gln29His
|
|
ENST00000345365.11:c.444G>T
MANE Select
|
ENSP00000338790.6:p.Gln148His
|
|
ENST00000335858.11:c.145-543G>T
|
ENSP00000338408.6:n.145-543G>T
|
|
ENST00000345365.10:c.444G>T
|
ENSP00000338790.6:p.Gln148His
|
|
ENST00000394589.8:c.444G>T
|
ENSP00000378090.4:p.Gln148His
|
|
ENST00000415064.6:n.594G>T
|
|
|
ENST00000460118.6:c.-88G>T
|
ENSP00000464356.2:n.-88G>T
|
|
ENST00000585343.5:c.526G>T
|
|
|
ENST00000585947.5:n.340G>T
|
|
|
ENST00000585982.5:n.500+342G>T
|
|
|
ENST00000586044.5:c.*175G>T
|
ENSP00000465584.1:n.*175G>T
|
|
ENST00000586186.2:c.248+342G>T
|
|
|
ENST00000586210.5:c.*38G>T
|
ENSP00000465612.1:n.*38G>T
|
|
ENST00000587405.5:c.87G>T
|
ENSP00000466478.1:p.Gln29His
|
|
ENST00000587977.5:c.*184G>T
|
ENSP00000466587.1:n.*184G>T
|
|
ENST00000587982.5:n.273+342G>T
|
|
|
ENST00000588372.5:c.87G>T
|
ENSP00000468764.1:p.Gln29His
|
|
ENST00000588594.5:c.*76+342G>T
|
ENSP00000465366.1:n.*76+342G>T
|
|
ENST00000590016.5:c.504G>T
|
ENSP00000466399.1:p.Gln168His
|
|
ENST00000590631.1:c.-51-543G>T
|
ENSP00000465033.1:n.-51-543G>T
|
|
ENST00000591723.5:c.-52+342G>T
|
ENSP00000467986.1:n.-52+342G>T
|
|
ENST00000592181.1:c.87G>T
|
ENSP00000464799.1:p.Gln29His
|
|
ENST00000592430.5:n.413G>T
|
|
|
ENST00000592577.5:c.450G>T
|
ENSP00000466839.1:p.Gln150His
|
|
ENST00000592850.5:c.346-543G>T
|
|
|
ENST00000592928.2:n.167-543G>T
|
|
|
ENST00000593039.5:c.4-543G>T
|
ENSP00000466834.1:n.4-543G>T
|
|
NM_001142571.1:c.504G>T
|
NP_001136043.1:p.Gln168His
|
|
NM_002878.3:c.444G>T , LRG_516t1:c.444G>T
|
NP_002869.3:p.Gln148His
|
|
NM_133629.2:c.145-543G>T
|
NP_598332.1:n.145-543G>T
|
|
NR_037711.1:n.581G>T
|
|
|
NR_037712.1:n.482+342G>T
|
|
|
NR_037714.1:n.233-543G>T
|
|
|
NM_001142571.2:c.504G>T
|
NP_001136043.1:p.Gln168His
|
|
NM_133629.3:c.145-543G>T
|
NP_598332.1:n.145-543G>T
|
|
NR_037711.2:n.470G>T
|
|
|
NR_037712.2:n.371+342G>T
|
|
|
NM_002878.4:c.444G>T
MANE Select
|
NP_002869.3:p.Gln148His
|
|