ENST00000557915.2:n.1323G>A
|
|
|
ENST00000557921.3:c.912G>A
|
ENSP00000453157.3:p.Leu304=
|
|
ENST00000699682.1:n.1410G>A
|
|
|
ENST00000699683.1:n.1460G>A
|
|
|
ENST00000699684.1:c.*613G>A
|
ENSP00000514523.1:n.*613G>A
|
|
ENST00000699685.1:n.1224G>A
|
|
|
ENST00000699686.1:c.813G>A
|
ENSP00000514524.1:p.Leu271=
|
|
ENST00000699687.1:c.915G>A
|
ENSP00000514525.1:p.Leu305=
|
|
ENST00000699688.1:n.1220G>A
|
|
|
ENST00000699689.1:n.1576G>A
|
|
|
ENST00000699690.1:n.1773G>A
|
|
|
ENST00000699691.1:n.1917G>A
|
|
|
ENST00000699693.1:n.1437G>A
|
|
|
ENST00000699694.1:n.1679G>A
|
|
|
ENST00000699695.1:c.*392G>A
|
ENSP00000514526.1:n.*392G>A
|
|
ENST00000699696.1:n.1323G>A
|
|
|
ENST00000699697.1:c.1020G>A
|
ENSP00000514527.1:p.Leu340=
|
|
ENST00000699698.1:n.941G>A
|
|
|
ENST00000699699.1:n.1344G>A
|
|
|
ENST00000699700.1:n.1467G>A
|
|
|
ENST00000699701.1:c.*400G>A
|
ENSP00000514528.1:n.*400G>A
|
|
ENST00000267415.12:c.1020G>A
MANE Select
|
ENSP00000267415.7:p.Leu340=
|
|
ENST00000646753.1:c.915G>A
|
ENSP00000494065.1:p.Leu305=
|
|
ENST00000267415.11:c.1020G>A
|
ENSP00000267415.7:p.Leu340=
|
|
ENST00000399423.8:c.1020G>A
|
ENSP00000382350.4:p.Leu340=
|
|
ENST00000557915.1:n.139G>A
|
|
|
ENST00000558566.1:c.*392G>A
|
ENSP00000453025.1:n.*392G>A
|
|
ENST00000559969.5:c.778G>A
|
|
|
ENST00000560019.5:c.15G>A
|
ENSP00000453113.1:p.Leu5=
|
|
ENST00000626689.2:c.*392G>A
|
ENSP00000486681.1:n.*392G>A
|
|
NM_001099274.1:c.1020G>A
|
NP_001092744.1:p.Leu340=
|
|
NM_012461.2:c.1020G>A
|
NP_036593.2:p.Leu340=
|
|
XM_005267528.2:c.1020G>A
|
XP_005267585.1:p.Leu340=
|
|
XM_005267529.2:c.915G>A
|
XP_005267586.1:p.Leu305=
|
|
NM_001099274.2:c.1020G>A
|
NP_001092744.1:p.Leu340=
|
|
NM_001363668.1:c.915G>A
|
NP_001350597.1:p.Leu305=
|
|
NM_012461.3:c.1020G>A
|
NP_036593.2:p.Leu340=
|
|
XM_011536642.2:c.*400G>A
|
XP_011534944.1:n.*400G>A
|
|
XM_017021216.2:c.378G>A
|
XP_016876705.1:p.Leu126=
|
|
XM_017021217.1:c.378G>A
|
XP_016876706.1:p.Leu126=
|
|
NM_001099274.3:c.1020G>A
MANE Select
|
NP_001092744.1:p.Leu340=
|
|
NM_001363668.2:c.915G>A
|
NP_001350597.1:p.Leu305=
|
|