ENST00000461271.6:c.*1571A>C
|
ENSP00000464056.2:n.*1571A>C
|
|
ENST00000697680.1:c.*2003A>C
|
ENSP00000513392.1:n.*2003A>C
|
|
ENST00000697681.1:c.*2200A>C
|
ENSP00000513393.1:n.*2200A>C
|
|
ENST00000697683.1:c.*1975A>C
|
ENSP00000513395.1:n.*1975A>C
|
|
ENST00000697685.1:c.*1736A>C
|
ENSP00000513396.1:n.*1736A>C
|
|
ENST00000697686.1:c.810A>C
|
ENSP00000513397.1:p.Leu270Phe
|
|
ENST00000697689.1:c.*1453A>C
|
ENSP00000513398.1:n.*1453A>C
|
|
ENST00000697690.1:c.917A>C
|
ENSP00000513399.1:p.Ter306Ser
|
|
ENST00000697691.1:c.*1011A>C
|
ENSP00000513400.1:n.*1011A>C
|
|
ENST00000697692.1:c.*1051A>C
|
ENSP00000513401.1:n.*1051A>C
|
|
ENST00000697694.1:c.688A>C
|
ENSP00000513402.1:p.Arg230=
|
|
ENST00000697695.1:n.1646A>C
|
|
|
ENST00000337432.9:c.1039A>C
MANE Select
|
ENSP00000336701.4:p.Arg347=
|
|
ENST00000337432.8:c.1039A>C
|
ENSP00000336701.4:p.Arg347=
|
|
ENST00000413590.5:c.680A>C
|
|
|
ENST00000461706.1:n.226A>C
|
|
|
ENST00000475762.5:c.*1675A>C
|
ENSP00000432421.1:n.*1675A>C
|
|
ENST00000482007.5:c.*467A>C
|
ENSP00000433332.1:n.*467A>C
|
|
ENST00000487525.5:c.*615A>C
|
ENSP00000431637.1:n.*615A>C
|
|
ENST00000578151.1:n.252A>C
|
|
|
ENST00000581221.5:n.554A>C
|
|
|
ENST00000584804.1:c.273A>C
|
ENSP00000463658.1:p.Leu91Phe
|
|
NM_058216.2:c.1039A>C
|
NP_478123.1:p.Arg347=
|
|
NR_103872.1:n.943A>C
|
|
|
XM_006722001.2:c.1042A>C
|
XP_006722064.1:p.Arg348=
|
|
XM_006722002.2:c.978A>C
|
XP_006722065.1:p.Leu326Phe
|
|
XM_006722004.2:c.691A>C
|
XP_006722067.1:p.Arg231=
|
|
XM_006722005.2:c.691A>C
|
XP_006722068.1:p.Arg231=
|
|
XM_011525092.1:c.691A>C
|
XP_011523394.1:p.Arg231=
|
|
XM_011525093.1:c.691A>C
|
XP_011523395.1:p.Arg231=
|
|
XM_011525094.1:c.691A>C
|
XP_011523396.1:p.Arg231=
|
|
XR_934513.1:n.1257A>C
|
|
|
XR_934514.1:n.1260A>C
|
|
|
XR_934886.1:n.149+3941T>G
|
|
|
XM_006722001.4:c.1042A>C
|
XP_006722064.1:p.Arg348=
|
|
XM_006722002.4:c.978A>C
|
XP_006722065.1:p.Leu326Phe
|
|
XM_006722004.3:c.691A>C
|
XP_006722067.1:p.Arg231=
|
|
XM_006722005.3:c.691A>C
|
XP_006722068.1:p.Arg231=
|
|
XM_011525092.2:c.691A>C
|
XP_011523394.1:p.Arg231=
|
|
XM_011525093.2:c.691A>C
|
XP_011523395.1:p.Arg231=
|
|
XM_011525094.2:c.691A>C
|
XP_011523396.1:p.Arg231=
|
|
XM_017024914.1:c.688A>C
|
XP_016880403.1:p.Arg230=
|
|
XM_017024915.1:c.688A>C
|
XP_016880404.1:p.Arg230=
|
|
XM_017024916.1:c.688A>C
|
XP_016880405.1:p.Arg230=
|
|
XM_017024917.1:c.688A>C
|
XP_016880406.1:p.Arg230=
|
|
XM_017024918.2:c.688A>C
|
XP_016880407.1:p.Arg230=
|
|
XM_017024919.1:c.627A>C
|
XP_016880408.1:p.Leu209Phe
|
|
XR_934513.3:n.1688A>C
|
|
|
XR_934514.3:n.1691A>C
|
|
|
XR_934886.2:n.149+3941T>G
|
|
|
NM_058216.3:c.1039A>C
MANE Select
|
NP_478123.1:p.Arg347=
|
|
NR_103872.2:n.914A>C
|
|
|