|
ENST00000268704.7:c.2094G>A
|
ENSP00000268704.3:p.Leu698=
|
|
|
ENST00000561702.6:n.2787G>A
|
|
|
|
ENST00000565891.2:c.12G>A
|
ENSP00000495004.1:p.Leu4=
|
|
|
ENST00000566682.2:c.1156G>A
|
ENSP00000461979.2:n.1156G>A
|
|
|
ENST00000569720.2:n.798G>A
|
|
|
|
ENST00000569820.6:c.2388G>A
|
|
|
|
ENST00000642226.1:n.2178G>A
|
|
|
|
ENST00000642334.1:c.3533G>A
|
|
|
|
ENST00000642814.1:n.1530G>A
|
|
|
|
ENST00000642984.1:n.1838G>A
|
|
|
|
ENST00000643105.1:c.2821G>A
|
|
|
|
ENST00000643350.1:n.1529G>A
|
|
|
|
ENST00000643409.1:n.2540G>A
|
|
|
|
ENST00000643496.1:n.1932G>A
|
|
|
|
ENST00000643649.1:c.2004G>A
|
ENSP00000494806.1:p.Leu668=
|
|
|
ENST00000643668.1:c.*2409G>A
|
ENSP00000494903.1:n.*2409G>A
|
|
|
ENST00000643724.1:c.*1163G>A
|
ENSP00000496335.1:n.*1163G>A
|
|
|
ENST00000643954.1:c.3014G>A
|
|
|
|
ENST00000644171.1:n.2875G>A
|
|
|
|
ENST00000644210.1:c.*687G>A
|
ENSP00000495675.1:n.*687G>A
|
|
|
ENST00000644225.1:n.2132G>A
|
|
|
|
ENST00000644281.1:n.2799G>A
|
|
|
|
ENST00000644464.1:n.768G>A
|
|
|
|
ENST00000644498.1:c.*1934G>A
|
ENSP00000496244.1:n.*1934G>A
|
|
|
ENST00000644671.1:c.1772G>A
|
|
|
|
ENST00000644751.1:c.1303G>A
|
|
|
|
ENST00000644781.1:c.2070G>A
|
ENSP00000495473.1:p.Leu690=
|
|
|
ENST00000644901.1:c.*2509G>A
|
ENSP00000493797.1:n.*2509G>A
|
|
|
ENST00000645042.1:c.*889G>A
|
ENSP00000493908.1:n.*889G>A
|
|
|
ENST00000645063.1:c.2115G>A
|
ENSP00000493590.1:p.Leu705=
|
|
|
ENST00000645354.1:c.2875G>A
|
|
|
|
ENST00000645392.1:n.2456G>A
|
|
|
|
ENST00000645742.1:n.749G>A
|
|
|
|
ENST00000645818.2:c.2115G>A
MANE Select
|
ENSP00000495795.2:p.Leu705=
|
|
|
ENST00000645842.1:n.1960G>A
|
|
|
|
ENST00000645886.1:c.1620G>A
|
|
|
|
ENST00000645897.1:c.1653G>A
|
ENSP00000495293.1:p.Leu551=
|
|
|
ENST00000645952.1:n.1980G>A
|
|
|
|
ENST00000645977.1:n.3233G>A
|
|
|
|
ENST00000646005.1:n.1873G>A
|
|
|
|
ENST00000646263.1:c.*988G>A
|
ENSP00000494119.1:n.*988G>A
|
|
|
ENST00000646303.1:c.1983G>A
|
ENSP00000494160.1:p.Leu661=
|
|
|
ENST00000646399.1:c.3009G>A
|
|
|
|
ENST00000646445.1:c.973G>A
|
|
|
|
ENST00000646531.1:c.*738G>A
|
ENSP00000495185.1:n.*738G>A
|
|
|
ENST00000646589.1:c.*1243G>A
|
ENSP00000494739.1:n.*1243G>A
|
|
|
ENST00000646716.1:c.1167G>A
|
ENSP00000495593.1:p.Leu389=
|
|
|
ENST00000646826.1:c.*788G>A
|
ENSP00000495123.1:n.*788G>A
|
|
|
ENST00000646930.1:c.*2044G>A
|
ENSP00000495219.1:n.*2044G>A
|
|
|
ENST00000647032.1:c.1746G>A
|
|
|
|
ENST00000647079.1:c.1707G>A
|
ENSP00000495967.1:p.Leu569=
|
|
|
ENST00000647123.1:n.2072G>A
|
|
|
|
ENST00000647227.1:c.1753G>A
|
|
|
|
ENST00000647302.1:n.2765G>A
|
|
|
|
ENST00000647476.1:n.1002G>A
|
|
|
|
ENST00000647491.1:n.1859G>A
|
|
|
|
ENST00000268704.6:c.2115G>A
|
ENSP00000268704.2:p.Leu705=
|
|
|
ENST00000561702.5:n.1100G>A
|
|
|
|
ENST00000561911.5:c.715G>A
|
ENSP00000457387.1:n.715G>A
|
|
|
ENST00000566682.1:c.251G>A
|
|
|
|
ENST00000569720.1:n.306G>A
|
|
|
|
ENST00000569820.5:c.1357G>A
|
|
|
|
ENST00000620811.4:c.*161G>A
|
ENSP00000478030.1:n.*161G>A
|
|
|
NM_003119.3:c.2115G>A
|
NP_003110.1:p.Leu705=
|
|
|
XM_006721264.2:c.2115G>A
|
XP_006721327.1:p.Leu705=
|
|
|
NM_001363850.1:c.2115G>A
|
NP_001350779.1:p.Leu705=
|
|
|
XM_006721264.4:c.2115G>A
|
XP_006721327.1:p.Leu705=
|
|
|
XR_001751971.2:n.2464G>A
|
|
|
|
XR_001751972.2:n.3751G>A
|
|
|
|
NM_003119.4:c.2115G>A
MANE Select
|
NP_003110.1:p.Leu705=
|
|
