|
ENST00000696231.1:c.*1228C>G
|
ENSP00000512497.1:n.*1228C>G
|
|
|
ENST00000696232.1:c.2232-2379C>G
|
ENSP00000512498.1:n.2232-2379C>G
|
|
|
ENST00000696233.1:c.*975-2379C>G
|
ENSP00000512499.1:n.*975-2379C>G
|
|
|
ENST00000696238.1:c.*1020C>G
|
ENSP00000512502.1:n.*1020C>G
|
|
|
ENST00000696239.1:c.2058C>G
|
ENSP00000512503.1:p.Cys686Trp
|
|
|
ENST00000696245.1:n.327-826C>G
|
|
|
|
ENST00000201963.3:c.2253C>G
|
ENSP00000201963.3:p.Cys751Trp
|
|
|
ENST00000328111.6:c.2277C>G
MANE Select
|
ENSP00000328547.2:p.Cys759Trp
|
|
|
ENST00000348286.6:c.2172-2379C>G
|
ENSP00000337764.2:n.2172-2379C>G
|
|
|
ENST00000353855.6:c.2217C>G
|
ENSP00000313397.4:p.Cys739Trp
|
|
|
ENST00000443239.7:c.2046-2379C>G
|
ENSP00000403169.2:n.2046-2379C>G
|
|
|
ENST00000456297.6:c.1944-2379C>G
|
ENSP00000412305.1:n.1944-2379C>G
|
|
|
NM_001207055.1:c.2046-2379C>G
|
NP_001193984.1:n.2046-2379C>G
|
|
|
NM_001207056.1:c.1944-2379C>G
|
NP_001193985.1:n.1944-2379C>G
|
|
|
NM_006892.3:c.2277C>G , LRG_56t1:c.2277C>G
|
NP_008823.1:p.Cys759Trp
|
|
|
NM_175848.1:c.2217C>G
|
NP_787044.1:p.Cys739Trp
|
|
|
NM_175849.1:c.2172-2379C>G
|
NP_787045.1:n.2172-2379C>G
|
|
|
NM_175850.2:c.2253C>G
|
NP_787046.1:p.Cys751Trp
|
|
|
XM_011528653.1:c.2208-2379C>G
|
XP_011526955.1:n.2208-2379C>G
|
|
|
XM_011528654.1:c.2082-2379C>G
|
XP_011526956.1:n.2082-2379C>G
|
|
|
XR_936510.1:n.2244C>G
|
|
|
|
XR_936511.1:n.2199-2379C>G
|
|
|
|
XR_936512.1:n.2119C>G
|
|
|
|
XM_011528653.2:c.2208-2379C>G
|
XP_011526955.1:n.2208-2379C>G
|
|
|
XM_011528654.2:c.2082-2379C>G
|
XP_011526956.1:n.2082-2379C>G
|
|
|
XR_936510.2:n.2255C>G
|
|
|
|
XR_936511.2:n.2210-2379C>G
|
|
|
|
XR_936512.2:n.2131C>G
|
|
|
|
NM_001207055.2:c.2046-2379C>G
|
NP_001193984.1:n.2046-2379C>G
|
|
|
NM_001207056.2:c.1944-2379C>G
|
NP_001193985.1:n.1944-2379C>G
|
|
|
NM_006892.4:c.2277C>G
MANE Select
|
NP_008823.1:p.Cys759Trp
|
|
|
NM_175848.2:c.2217C>G
|
NP_787044.1:p.Cys739Trp
|
|
|
NM_175849.2:c.2172-2379C>G
|
NP_787045.1:n.2172-2379C>G
|
|
|
NM_175850.3:c.2253C>G
|
NP_787046.1:p.Cys751Trp
|
|
