ENST00000695879.1:n.570T>A
|
|
|
ENST00000324288.14:c.545T>A
MANE Select
|
ENSP00000316328.8:p.Leu182Gln
|
|
ENST00000637439.1:c.779T>A
|
ENSP00000489907.1:p.Leu260Gln
|
|
ENST00000324288.12:c.545T>A
|
ENSP00000316328.8:p.Leu182Gln
|
|
ENST00000381835.9:c.481+543T>A
|
ENSP00000371257.5:n.481+543T>A
|
|
ENST00000537380.1:n.545T>A
|
|
|
ENST00000570546.5:n.666T>A
|
|
|
ENST00000571186.5:c.*266T>A
|
ENSP00000459829.1:n.*266T>A
|
|
ENST00000573309.5:n.599+543T>A
|
|
|
ENST00000576601.1:c.473T>A
|
ENSP00000459608.1:p.Leu158Gln
|
|
ENST00000611587.4:c.484+543T>A
|
ENSP00000483487.1:n.484+543T>A
|
|
ENST00000618207.4:c.545T>A
|
ENSP00000484761.1:p.Leu182Gln
|
|
ENST00000618327.4:c.548T>A
|
ENSP00000485010.1:p.Leu183Gln
|
|
NM_000246.3:c.545T>A , LRG_49t1:c.545T>A
|
NP_000237.2:p.Leu182Gln
|
|
NM_001286402.1:c.548T>A
|
NP_001273331.1:p.Leu183Gln
|
|
NM_001286403.1:c.481+543T>A
|
NP_001273332.1:n.481+543T>A
|
|
NR_104444.1:n.678T>A
|
|
|
XM_006720880.2:c.842T>A
|
XP_006720943.2:p.Leu281Gln
|
|
XM_011522484.1:c.842T>A
|
XP_011520786.1:p.Leu281Gln
|
|
XM_011522485.1:c.842T>A
|
XP_011520787.1:p.Leu281Gln
|
|
XM_011522486.1:c.842T>A
|
XP_011520788.1:p.Leu281Gln
|
|
XM_011522487.1:c.679+543T>A
|
XP_011520789.1:n.679+543T>A
|
|
XM_011522488.1:c.593T>A
|
XP_011520790.1:p.Leu198Gln
|
|
XM_011522489.1:c.676+543T>A
|
XP_011520791.1:n.676+543T>A
|
|
XM_011522490.1:c.590T>A
|
XP_011520792.1:p.Leu197Gln
|
|
XM_011522491.1:c.842T>A
|
XP_011520793.1:p.Leu281Gln
|
|
XM_011522492.1:c.548T>A
|
XP_011520794.1:p.Leu183Gln
|
|
XM_011522493.1:c.545T>A
|
XP_011520795.1:p.Leu182Gln
|
|
XM_011522494.1:c.476T>A
|
XP_011520796.1:p.Leu159Gln
|
|
XM_011522495.1:c.484+543T>A
|
XP_011520797.1:n.484+543T>A
|
|
XM_011522496.1:c.481+543T>A
|
XP_011520798.1:n.481+543T>A
|
|
XR_932841.1:n.857T>A
|
|
|
XR_932842.1:n.857T>A
|
|
|
XR_932843.1:n.857T>A
|
|
|
XR_932846.1:n.857T>A
|
|
|
XR_932847.1:n.857T>A
|
|
|
XR_932848.1:n.631+543T>A
|
|
|
XM_006720880.3:c.842T>A
|
XP_006720943.2:p.Leu281Gln
|
|
XM_011522484.3:c.842T>A
|
XP_011520786.1:p.Leu281Gln
|
|
XM_011522485.2:c.842T>A
|
XP_011520787.1:p.Leu281Gln
|
|
XM_011522486.2:c.842T>A
|
XP_011520788.1:p.Leu281Gln
|
|
XM_011522487.2:c.679+543T>A
|
XP_011520789.1:n.679+543T>A
|
|
XM_011522488.2:c.593T>A
|
XP_011520790.1:p.Leu198Gln
|
|
XM_011522489.2:c.676+543T>A
|
XP_011520791.1:n.676+543T>A
|
|
XM_011522490.2:c.590T>A
|
XP_011520792.1:p.Leu197Gln
|
|
XM_011522491.2:c.842T>A
|
XP_011520793.1:p.Leu281Gln
|
|
XM_011522492.2:c.548T>A
|
XP_011520794.1:p.Leu183Gln
|
|
XM_011522493.2:c.545T>A
|
XP_011520795.1:p.Leu182Gln
|
|
XM_011522494.2:c.476T>A
|
XP_011520796.1:p.Leu159Gln
|
|
XM_011522495.2:c.484+543T>A
|
XP_011520797.1:n.484+543T>A
|
|
XM_011522496.2:c.481+543T>A
|
XP_011520798.1:n.481+543T>A
|
|
XM_024450280.1:c.788T>A
|
XP_024306048.1:p.Leu263Gln
|
|
XM_024450281.1:c.724+543T>A
|
XP_024306049.1:n.724+543T>A
|
|
XR_001751904.1:n.861T>A
|
|
|
XR_932841.3:n.859T>A
|
|
|
XR_932842.2:n.859T>A
|
|
|
XR_932846.3:n.861T>A
|
|
|
XR_932847.3:n.861T>A
|
|
|
NM_001286403.2:c.481+543T>A
|
NP_001273332.1:n.481+543T>A
|
|
NR_104444.2:n.674T>A
|
|
|
NM_000246.4:c.545T>A
MANE Select
|
NP_000237.2:p.Leu182Gln
|
|
NM_001379330.1:c.484+543T>A
|
NP_001366259.1:n.484+543T>A
|
|
NM_001379331.1:c.481+543T>A
|
NP_001366260.1:n.481+543T>A
|
|
NM_001379332.1:c.548T>A
|
NP_001366261.1:p.Leu183Gln
|
|
NM_001379333.1:c.545T>A
|
NP_001366262.1:p.Leu182Gln
|
|
NM_001379334.1:c.476T>A
|
NP_001366263.1:p.Leu159Gln
|
|