|
ENST00000696231.1:c.*764G>C
|
ENSP00000512497.1:n.*764G>C
|
|
|
ENST00000696232.1:c.1813G>C
|
ENSP00000512498.1:p.Glu605Gln
|
|
|
ENST00000696233.1:c.*556G>C
|
ENSP00000512499.1:n.*556G>C
|
|
|
ENST00000696235.1:c.*461G>C
|
ENSP00000512500.1:n.*461G>C
|
|
|
ENST00000696238.1:c.*556G>C
|
ENSP00000512502.1:n.*556G>C
|
|
|
ENST00000696239.1:c.1594G>C
|
ENSP00000512503.1:p.Glu532Gln
|
|
|
ENST00000201963.3:c.1789G>C
|
ENSP00000201963.3:p.Glu597Gln
|
|
|
ENST00000328111.6:c.1813G>C
MANE Select
|
ENSP00000328547.2:p.Glu605Gln
|
|
|
ENST00000348286.6:c.1753G>C
|
ENSP00000337764.2:p.Glu585Gln
|
|
|
ENST00000353855.6:c.1753G>C
|
ENSP00000313397.4:p.Glu585Gln
|
|
|
ENST00000443239.7:c.1627G>C
|
ENSP00000403169.2:p.Glu543Gln
|
|
|
ENST00000456297.6:c.1525G>C
|
ENSP00000412305.1:p.Glu509Gln
|
|
|
NM_001207055.1:c.1627G>C
|
NP_001193984.1:p.Glu543Gln
|
|
|
NM_001207056.1:c.1525G>C
|
NP_001193985.1:p.Glu509Gln
|
|
|
NM_006892.3:c.1813G>C , LRG_56t1:c.1813G>C
|
NP_008823.1:p.Glu605Gln
|
|
|
NM_175848.1:c.1753G>C
|
NP_787044.1:p.Glu585Gln
|
|
|
NM_175849.1:c.1753G>C
|
NP_787045.1:p.Glu585Gln
|
|
|
NM_175850.2:c.1789G>C
|
NP_787046.1:p.Glu597Gln
|
|
|
XM_011528653.1:c.1789G>C
|
XP_011526955.1:p.Glu597Gln
|
|
|
XM_011528654.1:c.1663G>C
|
XP_011526956.1:p.Glu555Gln
|
|
|
XR_936510.1:n.1780G>C
|
|
|
|
XR_936511.1:n.1780G>C
|
|
|
|
XR_936512.1:n.1655G>C
|
|
|
|
XM_011528653.2:c.1789G>C
|
XP_011526955.1:p.Glu597Gln
|
|
|
XM_011528654.2:c.1663G>C
|
XP_011526956.1:p.Glu555Gln
|
|
|
XR_936510.2:n.1791G>C
|
|
|
|
XR_936511.2:n.1791G>C
|
|
|
|
XR_936512.2:n.1667G>C
|
|
|
|
NM_001207055.2:c.1627G>C
|
NP_001193984.1:p.Glu543Gln
|
|
|
NM_001207056.2:c.1525G>C
|
NP_001193985.1:p.Glu509Gln
|
|
|
NM_006892.4:c.1813G>C
MANE Select
|
NP_008823.1:p.Glu605Gln
|
|
|
NM_175848.2:c.1753G>C
|
NP_787044.1:p.Glu585Gln
|
|
|
NM_175849.2:c.1753G>C
|
NP_787045.1:p.Glu585Gln
|
|
|
NM_175850.3:c.1789G>C
|
NP_787046.1:p.Glu597Gln
|
|
