ENST00000321264.9:c.1040C>A
MANE Select
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ENSP00000315351.4:p.Ala347Glu
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ENST00000321264.8:c.1040C>A
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ENSP00000315351.4:p.Ala347Glu
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ENST00000400769.6:c.854-4561C>A
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ENSP00000383580.2:n.854-4561C>A
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ENST00000403782.5:c.638C>A
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ENSP00000384723.1:p.Ala213Glu
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ENST00000432449.1:c.300C>A
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ENST00000436747.5:c.*1356C>A
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ENSP00000400212.1:n.*1356C>A
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ENST00000454048.1:c.143C>A
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ENSP00000404596.1:p.Ala48Glu
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ENST00000467427.5:n.389+994C>A
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ENST00000470343.5:n.521C>A
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ENST00000473126.1:n.239C>A
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ENST00000486953.5:n.163+994C>A
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ENST00000496252.5:n.395C>A
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NM_001287249.1:c.638C>A
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NP_001274178.1:p.Ala213Glu
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NM_152783.4:c.1040C>A
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NP_689996.4:p.Ala347Glu
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NR_109778.1:n.1063-4561C>A
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XM_011511734.1:c.1118C>A
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XP_011510036.1:p.Ala373Glu
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XM_011511735.1:c.1118C>A
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XP_011510037.1:p.Ala373Glu
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XM_011511736.1:c.1040C>A
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XP_011510038.1:p.Ala347Glu
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XM_011511737.1:c.1118C>A
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XP_011510039.1:p.Ala373Glu
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XM_011511742.1:c.1255C>A
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XP_011510044.1:p.Gln419Lys
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XM_011511743.1:c.1255C>A
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XP_011510045.1:p.Gln419Lys
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XM_011511744.1:c.1255C>A
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XP_011510046.1:p.Gln419Lys
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XM_011511745.1:c.1118C>A
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XP_011510047.1:p.Ala373Glu
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XM_011511748.1:c.1189C>A
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XP_011510050.1:p.Gln397Lys
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XM_011511749.1:c.1179+994C>A
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XP_011510051.1:n.1179+994C>A
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XM_011511750.1:c.1118C>A
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XP_011510052.1:p.Ala373Glu
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XM_011511751.1:c.1212+709C>A
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XP_011510053.1:n.1212+709C>A
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XM_011511753.1:c.1075+994C>A
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XP_011510055.1:n.1075+994C>A
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XM_011511754.1:c.557C>A
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XP_011510056.1:p.Ala186Glu
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XM_011511755.1:c.548C>A
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XP_011510057.1:p.Ala183Glu
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XM_011511756.1:c.853+6411C>A
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XP_011510058.1:n.853+6411C>A
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XM_011511757.1:c.*56C>A
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XP_011510059.1:n.*56C>A
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XR_241434.3:n.1379C>A
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XR_923003.1:n.1901C>A
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XR_923004.1:n.1672C>A
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XR_923005.1:n.1415C>A
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XR_923006.1:n.1415C>A
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XR_923007.1:n.1382C>A
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XR_923008.1:n.1278C>A
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XR_923009.1:n.1278C>A
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XR_923010.1:n.1712C>A
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XR_923011.1:n.1483C>A
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XR_923012.1:n.1417C>A
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XR_923014.1:n.1014-4561C>A
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NM_001352824.1:c.479C>A
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NP_001339753.1:p.Ala160Glu
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XM_011511734.2:c.1118C>A
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XP_011510036.1:p.Ala373Glu
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XM_011511735.2:c.1118C>A
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XP_011510037.1:p.Ala373Glu
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XM_011511736.2:c.1040C>A
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XP_011510038.1:p.Ala347Glu
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XM_011511737.3:c.1118C>A
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XP_011510039.1:p.Ala373Glu
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XM_011511743.2:c.1255C>A
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XP_011510045.1:p.Gln419Lys
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XM_011511744.2:c.1255C>A
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XP_011510046.1:p.Gln419Lys
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XM_011511745.3:c.1118C>A
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XP_011510047.1:p.Ala373Glu
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XM_011511749.3:c.1179+994C>A
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XP_011510051.1:n.1179+994C>A
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XM_011511750.3:c.1118C>A
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XP_011510052.1:p.Ala373Glu
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XM_011511751.2:c.1212+709C>A
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XP_011510053.1:n.1212+709C>A
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XM_011511753.3:c.1075+994C>A
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XP_011510055.1:n.1075+994C>A
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XM_011511756.2:c.853+6411C>A
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XP_011510058.1:n.853+6411C>A
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XM_011511757.3:c.*56C>A
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XP_011510059.1:n.*56C>A
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XM_017004828.2:c.1040C>A
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XP_016860317.1:p.Ala347Glu
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XM_017004829.2:c.1255C>A
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XP_016860318.1:p.Gln419Lys
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XM_017004830.2:c.1118C>A
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XP_016860319.1:p.Ala373Glu
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XM_024453102.1:c.890C>A
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XP_024308870.1:p.Ala297Glu
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XR_001738918.2:n.1414C>A
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XR_001738919.2:n.1348C>A
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XR_002959334.1:n.1900C>A
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XR_002959335.1:n.1544C>A
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XR_241434.4:n.1378C>A
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XR_923004.3:n.1671C>A
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XR_923005.2:n.1414C>A
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XR_923007.3:n.1381C>A
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XR_923009.2:n.1277C>A
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XR_923010.2:n.1711C>A
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XR_923011.3:n.1482C>A
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XR_923012.2:n.1416C>A
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XR_923014.3:n.1013-4561C>A
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NM_152783.5:c.1040C>A
MANE Select
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NP_689996.4:p.Ala347Glu
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NM_001287249.2:c.638C>A
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NP_001274178.1:p.Ala213Glu
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NM_001352824.2:c.479C>A
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NP_001339753.1:p.Ala160Glu
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NR_109778.2:n.1012-4561C>A
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