ENST00000699749.1:c.687A>T
|
ENSP00000514559.1:p.Leu229=
|
|
ENST00000699750.1:c.*615A>T
|
ENSP00000514560.1:n.*615A>T
|
|
ENST00000699751.1:n.1278+625A>T
|
|
|
ENST00000699779.1:c.*3624A>T
|
ENSP00000514585.1:n.*3624A>T
|
|
ENST00000699780.1:c.728+625A>T
|
ENSP00000514586.1:n.728+625A>T
|
|
ENST00000699781.1:c.*332+625A>T
|
ENSP00000514587.1:n.*332+625A>T
|
|
ENST00000699782.1:c.657A>T
|
ENSP00000514588.1:p.Leu219=
|
|
ENST00000699783.1:c.726A>T
|
ENSP00000514589.1:p.Leu242=
|
|
ENST00000699784.1:c.726A>T
|
ENSP00000514590.1:p.Leu242=
|
|
ENST00000699785.1:c.*761A>T
|
ENSP00000514591.1:n.*761A>T
|
|
ENST00000373719.8:c.756A>T
MANE Select
|
ENSP00000362824.3:p.Leu252=
|
|
ENST00000373701.7:c.726A>T
|
ENSP00000362805.3:p.Leu242=
|
|
ENST00000373719.7:c.756A>T
|
ENSP00000362824.3:p.Leu252=
|
|
ENST00000459760.1:n.133A>T
|
|
|
ENST00000488174.5:n.4165+625A>T
|
|
|
NM_181672.2:c.756A>T
|
NP_858058.1:p.Leu252=
|
|
NM_181673.2:c.726A>T
|
NP_858059.1:p.Leu242=
|
|
XM_005262308.1:c.-220+625A>T
|
XP_005262365.1:n.-220+625A>T
|
|
XM_017029908.1:c.-220+625A>T
|
XP_016885397.1:n.-220+625A>T
|
|
XM_024452467.1:c.-220+625A>T
|
XP_024308235.1:n.-220+625A>T
|
|
NM_181672.3:c.756A>T
MANE Select
|
NP_858058.1:p.Leu252=
|
|
NM_181673.3:c.726A>T
|
NP_858059.1:p.Leu242=
|
|