|
NM_003119.4:c.2246C>T
MANE Select
|
NP_003110.1:p.Pro749Leu
|
|
ENST00000645818.2:c.2246C>T
MANE Select
|
ENSP00000495795.2:p.Pro749Leu
|
|
NM_001363850.1:c.*24C>T
|
NP_001350779.1:n.*24C>T
|
|
NM_003119.3:c.2246C>T
|
NP_003110.1:p.Pro749Leu
|
|
ENST00000268704.6:c.2246C>T
|
ENSP00000268704.2:p.Pro749Leu
|
|
ENST00000268704.7:c.2225C>T
|
ENSP00000268704.3:p.Pro742Leu
|
|
ENST00000561702.5:n.1231C>T
|
|
|
ENST00000561702.6:n.2918C>T
|
|
|
ENST00000561911.5:c.846C>T
|
ENSP00000457387.1:n.846C>T
|
|
ENST00000565891.1:n.287C>T
|
|
|
ENST00000565891.2:c.270C>T
|
ENSP00000495004.1:n.270C>T
|
|
ENST00000569720.1:n.437C>T
|
|
|
ENST00000569720.2:n.929C>T
|
|
|
ENST00000569820.5:c.1488C>T
|
|
|
ENST00000569820.6:c.2519C>T
|
|
|
ENST00000620811.4:c.*292C>T
|
ENSP00000478030.1:n.*292C>T
|
|
ENST00000642226.1:n.2309C>T
|
|
|
ENST00000642334.1:c.3664C>T
|
|
|
ENST00000642814.1:n.1661C>T
|
|
|
ENST00000642984.1:n.1969C>T
|
|
|
ENST00000643105.1:c.2952C>T
|
|
|
ENST00000643350.1:n.1660C>T
|
|
|
ENST00000643409.1:n.2671C>T
|
|
|
ENST00000643496.1:n.2063C>T
|
|
|
ENST00000643649.1:c.2135C>T
|
ENSP00000494806.1:p.Pro712Leu
|
|
ENST00000643668.1:c.*2540C>T
|
ENSP00000494903.1:n.*2540C>T
|
|
ENST00000643724.1:c.*1294C>T
|
ENSP00000496335.1:n.*1294C>T
|
|
ENST00000643954.1:c.3145C>T
|
|
|
ENST00000644171.1:n.3006C>T
|
|
|
ENST00000644210.1:c.*818C>T
|
ENSP00000495675.1:n.*818C>T
|
|
ENST00000644225.1:n.3785C>T
|
|
|
ENST00000644281.1:n.2930C>T
|
|
|
ENST00000644464.1:n.2421C>T
|
|
|
ENST00000644498.1:c.*2065C>T
|
ENSP00000496244.1:n.*2065C>T
|
|
ENST00000644671.1:c.1903C>T
|
|
|
ENST00000644751.1:c.1434C>T
|
|
|
ENST00000644781.1:c.2201C>T
|
ENSP00000495473.1:p.Pro734Leu
|
|
ENST00000644901.1:c.*2640C>T
|
ENSP00000493797.1:n.*2640C>T
|
|
ENST00000645042.1:c.*1020C>T
|
ENSP00000493908.1:n.*1020C>T
|
|
ENST00000645063.1:c.*24C>T
|
ENSP00000493590.1:n.*24C>T
|
|
ENST00000645392.1:n.2587C>T
|
|
|
ENST00000645742.1:n.880C>T
|
|
|
ENST00000645842.1:n.2091C>T
|
|
|
ENST00000645886.1:c.1751C>T
|
|
|
ENST00000645897.1:c.1784C>T
|
ENSP00000495293.1:p.Pro595Leu
|
|
ENST00000645952.1:n.2276C>T
|
|
|
ENST00000645977.1:n.3364C>T
|
|
|
ENST00000646005.1:n.2004C>T
|
|
|
ENST00000646263.1:c.*1119C>T
|
ENSP00000494119.1:n.*1119C>T
|
|
ENST00000646303.1:c.2114C>T
|
ENSP00000494160.1:p.Pro705Leu
|
|
ENST00000646399.1:c.3140C>T
|
|
|
ENST00000646445.1:c.1104C>T
|
|
|
ENST00000646531.1:c.*869C>T
|
ENSP00000495185.1:n.*869C>T
|
|
ENST00000646589.1:c.*1374C>T
|
ENSP00000494739.1:n.*1374C>T
|
|
ENST00000646716.1:c.*24C>T
|
ENSP00000495593.1:n.*24C>T
|
|
ENST00000646826.1:c.*919C>T
|
ENSP00000495123.1:n.*919C>T
|
|
ENST00000646930.1:c.*2175C>T
|
ENSP00000495219.1:n.*2175C>T
|
|
ENST00000647032.1:c.1877C>T
|
|
|
ENST00000647079.1:c.1838C>T
|
ENSP00000495967.1:p.Pro613Leu
|
|
ENST00000647123.1:n.2203C>T
|
|
|
ENST00000647227.1:c.1884C>T
|
|
|
ENST00000647302.1:n.2896C>T
|
|
|
ENST00000647476.1:n.3456C>T
|
|
|
ENST00000647491.1:n.1990C>T
|
|
|
XM_006721264.2:c.*24C>T
|
XP_006721327.1:n.*24C>T
|
|
XM_006721264.4:c.*24C>T
|
XP_006721327.1:n.*24C>T
|
|
XR_001751971.2:n.2595C>T
|
|
|
XR_001751972.2:n.3882C>T
|
|
