|
ENST00000710284.1:c.1661A>T
|
ENSP00000518174.1:p.Gln554Leu
|
|
|
ENST00000710285.1:c.2000A>T
|
ENSP00000518175.1:p.Gln667Leu
|
|
|
ENST00000476864.2:c.4568A>T
|
ENSP00000452319.2:p.Gln1523Leu
|
|
|
ENST00000495233.6:c.2229A>T
|
|
|
|
ENST00000700414.1:c.*4440A>T
|
ENSP00000514978.1:n.*4440A>T
|
|
|
ENST00000700415.1:c.4499A>T
|
ENSP00000514979.1:p.Gln1500Leu
|
|
|
ENST00000700417.1:c.4496A>T
|
ENSP00000514981.1:p.Gln1499Leu
|
|
|
ENST00000700419.1:c.2753A>T
|
ENSP00000514983.1:p.Gln918Leu
|
|
|
ENST00000700420.1:c.1958A>T
|
ENSP00000514994.1:p.Gln653Leu
|
|
|
ENST00000700421.1:c.1979A>T
|
ENSP00000514995.1:p.Gln660Leu
|
|
|
ENST00000700422.1:n.1081A>T
|
|
|
|
ENST00000700423.1:c.1661A>T
|
ENSP00000514996.1:p.Gln554Leu
|
|
|
ENST00000700424.1:c.1661A>T
|
ENSP00000514997.1:p.Gln554Leu
|
|
|
ENST00000700425.1:c.1619A>T
|
ENSP00000514998.1:p.Gln540Leu
|
|
|
ENST00000700445.1:c.2253A>T
|
|
|
|
ENST00000700446.1:n.3303A>T
|
|
|
|
ENST00000700447.1:n.2587A>T
|
|
|
|
ENST00000700448.1:c.591A>T
|
|
|
|
ENST00000700449.1:c.111A>T
|
|
|
|
ENST00000303635.12:c.4907A>T
MANE Select
|
ENSP00000306522.6:p.Gln1636Leu
|
|
|
ENST00000303635.11:c.4907A>T
|
ENSP00000306522.6:p.Gln1636Leu
|
|
|
ENST00000476864.1:c.599A>T
|
ENSP00000452319.1:p.Gln200Leu
|
|
|
ENST00000490905.5:c.604A>T
|
|
|
|
ENST00000495233.5:c.1798A>T
|
|
|
|
NM_015215.3:c.4907A>T
|
NP_056030.1:p.Gln1636Leu
|
|
|
XM_011541083.1:c.4928A>T
|
XP_011539385.1:p.Gln1643Leu
|
|
|
XM_011541084.1:c.4928A>T
|
XP_011539386.1:p.Gln1643Leu
|
|
|
XM_011541085.1:c.4916A>T
|
XP_011539387.1:p.Gln1639Leu
|
|
|
XM_011541086.1:c.4907A>T
|
XP_011539388.1:p.Gln1636Leu
|
|
|
XM_011541087.1:c.4856A>T
|
XP_011539389.1:p.Gln1619Leu
|
|
|
XM_011541088.1:c.4838A>T
|
XP_011539390.1:p.Gln1613Leu
|
|
|
XM_011541089.1:c.4589A>T
|
XP_011539391.1:p.Gln1530Leu
|
|
|
XM_011541090.1:c.4589A>T
|
XP_011539392.1:p.Gln1530Leu
|
|
|
NM_001349608.1:c.4817A>T
|
NP_001336537.1:p.Gln1606Leu
|
|
|
NM_001349609.1:c.4589A>T
|
NP_001336538.1:p.Gln1530Leu
|
|
|
NM_001349610.1:c.4583A>T
|
NP_001336539.1:p.Gln1528Leu
|
|
|
NM_001349612.1:c.4499A>T
|
NP_001336541.1:p.Gln1500Leu
|
|
|
NM_001349613.1:c.2036A>T
|
NP_001336542.1:p.Gln679Leu
|
|
|
NM_001349614.1:c.2000A>T
|
NP_001336543.1:p.Gln667Leu
|
|
|
NM_001349615.1:c.2000A>T
|
NP_001336544.1:p.Gln667Leu
|
|
|
NM_001349616.1:c.2000A>T
|
NP_001336545.1:p.Gln667Leu
|
|
|
NM_001349617.1:c.1979A>T
|
NP_001336546.1:p.Gln660Leu
|
|
|
NM_001349618.1:c.1979A>T
|
NP_001336547.1:p.Gln660Leu
|
|
|
NM_001349619.1:c.1661A>T
|
NP_001336548.1:p.Gln554Leu
|
|
|
NM_001349620.1:c.1661A>T
|
NP_001336549.1:p.Gln554Leu
|
|
|
NM_001349621.1:c.1661A>T
|
NP_001336550.1:p.Gln554Leu
|
|
|
NM_001349622.1:c.1661A>T
|
NP_001336551.1:p.Gln554Leu
|
|
|
NM_001349623.1:c.1640A>T
|
NP_001336552.1:p.Gln547Leu
|
|
|
NM_001349624.2:c.1640A>T
|
NP_001336553.1:p.Gln547Leu
|
|
|
NM_001349625.1:c.1640A>T
|
NP_001336554.1:p.Gln547Leu
|
|
|
NM_001349626.1:c.1640A>T
|
NP_001336555.1:p.Gln547Leu
|
|
|
XM_011541083.2:c.4928A>T
|
XP_011539385.1:p.Gln1643Leu
|
|
|
XM_011541084.2:c.4928A>T
|
XP_011539386.1:p.Gln1643Leu
|
|
|
XM_011541086.3:c.4907A>T
|
XP_011539388.1:p.Gln1636Leu
|
|
|
XM_011541087.2:c.4856A>T
|
XP_011539389.1:p.Gln1619Leu
|
|
|
XM_011541088.2:c.4838A>T
|
XP_011539390.1:p.Gln1613Leu
|
|
|
XM_011541090.3:c.4589A>T
|
XP_011539392.1:p.Gln1530Leu
|
|
|
XM_017000774.2:c.4928A>T
|
XP_016856263.1:p.Gln1643Leu
|
|
|
XM_017000777.1:c.4568A>T
|
XP_016856266.1:p.Gln1523Leu
|
|
|
XM_017000778.1:c.4568A>T
|
XP_016856267.1:p.Gln1523Leu
|
|
|
XM_024454329.1:c.2189A>T
|
XP_024310097.1:p.Gln730Leu
|
|
|
XM_024454330.1:c.2168A>T
|
XP_024310098.1:p.Gln723Leu
|
|
|
XM_024454331.1:c.2000A>T
|
XP_024310099.1:p.Gln667Leu
|
|
|
XM_024454332.1:c.2000A>T
|
XP_024310100.1:p.Gln667Leu
|
|
|
XM_024454333.1:c.2000A>T
|
XP_024310101.1:p.Gln667Leu
|
|
|
XM_024454334.1:c.2000A>T
|
XP_024310102.1:p.Gln667Leu
|
|
|
XM_024454335.1:c.2000A>T
|
XP_024310103.1:p.Gln667Leu
|
|
|
XM_024454338.1:c.1661A>T
|
XP_024310106.1:p.Gln554Leu
|
|
|
NM_015215.4:c.4907A>T
MANE Select
|
NP_056030.1:p.Gln1636Leu
|
|
|
NM_001349608.2:c.4817A>T
|
NP_001336537.1:p.Gln1606Leu
|
|
|
NM_001349609.2:c.4589A>T
|
NP_001336538.1:p.Gln1530Leu
|
|
|
NM_001349610.2:c.4583A>T
|
NP_001336539.1:p.Gln1528Leu
|
|
|
NM_001349612.2:c.4499A>T
|
NP_001336541.1:p.Gln1500Leu
|
|
|
NM_001349615.2:c.2000A>T
|
NP_001336544.1:p.Gln667Leu
|
|
|
NM_001349616.2:c.2000A>T
|
NP_001336545.1:p.Gln667Leu
|
|
|
NM_001349618.2:c.1979A>T
|
NP_001336547.1:p.Gln660Leu
|
|
|
NM_001349619.2:c.1661A>T
|
NP_001336548.1:p.Gln554Leu
|
|
|
NM_001349622.2:c.1661A>T
|
NP_001336551.1:p.Gln554Leu
|
|
|
NM_001349624.3:c.1640A>T
|
NP_001336553.1:p.Gln547Leu
|
|
|
NM_001349626.2:c.1640A>T
|
NP_001336555.1:p.Gln547Leu
|
|
|
NM_001349625.2:c.1640A>T
|
NP_001336554.1:p.Gln547Leu
|
|
