ENST00000699749.1:c.849G>A
|
ENSP00000514559.1:p.Lys283=
|
|
ENST00000699750.1:c.*777G>A
|
ENSP00000514560.1:n.*777G>A
|
|
ENST00000699751.1:n.1278+787G>A
|
|
|
ENST00000699779.1:c.*3786G>A
|
ENSP00000514585.1:n.*3786G>A
|
|
ENST00000699780.1:c.729-575G>A
|
ENSP00000514586.1:n.729-575G>A
|
|
ENST00000699781.1:c.*333-575G>A
|
ENSP00000514587.1:n.*333-575G>A
|
|
ENST00000699782.1:c.819G>A
|
ENSP00000514588.1:p.Lys273=
|
|
ENST00000699783.1:c.888G>A
|
ENSP00000514589.1:p.Lys296=
|
|
ENST00000699784.1:c.888G>A
|
ENSP00000514590.1:p.Lys296=
|
|
ENST00000699785.1:c.*923G>A
|
ENSP00000514591.1:n.*923G>A
|
|
ENST00000373719.8:c.918G>A
MANE Select
|
ENSP00000362824.3:p.Lys306=
|
|
ENST00000373701.7:c.888G>A
|
ENSP00000362805.3:p.Lys296=
|
|
ENST00000373719.7:c.918G>A
|
ENSP00000362824.3:p.Lys306=
|
|
ENST00000459760.1:n.295G>A
|
|
|
ENST00000488174.5:n.4166-575G>A
|
|
|
NM_181672.2:c.918G>A
|
NP_858058.1:p.Lys306=
|
|
NM_181673.2:c.888G>A
|
NP_858059.1:p.Lys296=
|
|
XM_005262308.1:c.-219-575G>A
|
XP_005262365.1:n.-219-575G>A
|
|
XM_017029908.1:c.-219-575G>A
|
XP_016885397.1:n.-219-575G>A
|
|
XM_024452467.1:c.-219-575G>A
|
XP_024308235.1:n.-219-575G>A
|
|
NM_181672.3:c.918G>A
MANE Select
|
NP_858058.1:p.Lys306=
|
|
NM_181673.3:c.888G>A
|
NP_858059.1:p.Lys296=
|
|