|
NM_058216.3:c.1048G>T
MANE Select
|
NP_478123.1:p.Val350Phe
|
|
ENST00000337432.9:c.1048G>T
MANE Select
|
ENSP00000336701.4:p.Val350Phe
|
|
NM_058216.2:c.1048G>T
|
NP_478123.1:p.Val350Phe
|
|
NR_103872.1:n.952G>T
|
|
|
NR_103872.2:n.923G>T
|
|
|
ENST00000337432.8:c.1048G>T
|
ENSP00000336701.4:p.Val350Phe
|
|
ENST00000413590.5:c.689G>T
|
|
|
ENST00000461271.6:c.*1580G>T
|
ENSP00000464056.2:n.*1580G>T
|
|
ENST00000461706.1:n.235G>T
|
|
|
ENST00000475762.5:c.*1684G>T
|
ENSP00000432421.1:n.*1684G>T
|
|
ENST00000482007.5:c.*476G>T
|
ENSP00000433332.1:n.*476G>T
|
|
ENST00000487525.5:c.*624G>T
|
ENSP00000431637.1:n.*624G>T
|
|
ENST00000578151.1:n.261G>T
|
|
|
ENST00000581221.5:n.563G>T
|
|
|
ENST00000584804.1:c.282G>T
|
ENSP00000463658.1:p.Leu94=
|
|
ENST00000697680.1:c.*2012G>T
|
ENSP00000513392.1:n.*2012G>T
|
|
ENST00000697681.1:c.*2209G>T
|
ENSP00000513393.1:n.*2209G>T
|
|
ENST00000697683.1:c.*1984G>T
|
ENSP00000513395.1:n.*1984G>T
|
|
ENST00000697685.1:c.*1745G>T
|
ENSP00000513396.1:n.*1745G>T
|
|
ENST00000697686.1:c.819G>T
|
ENSP00000513397.1:p.Leu273=
|
|
ENST00000697689.1:c.*1462G>T
|
ENSP00000513398.1:n.*1462G>T
|
|
ENST00000697690.1:c.*8G>T
|
ENSP00000513399.1:n.*8G>T
|
|
ENST00000697691.1:c.*1020G>T
|
ENSP00000513400.1:n.*1020G>T
|
|
ENST00000697692.1:c.*1060G>T
|
ENSP00000513401.1:n.*1060G>T
|
|
ENST00000697694.1:c.697G>T
|
ENSP00000513402.1:p.Val233Phe
|
|
ENST00000697695.1:n.1655G>T
|
|
|
XM_006722001.2:c.1051G>T
|
XP_006722064.1:p.Val351Phe
|
|
XM_006722001.4:c.1051G>T
|
XP_006722064.1:p.Val351Phe
|
|
XM_006722002.2:c.987G>T
|
XP_006722065.1:p.Leu329=
|
|
XM_006722002.4:c.987G>T
|
XP_006722065.1:p.Leu329=
|
|
XM_006722004.2:c.700G>T
|
XP_006722067.1:p.Val234Phe
|
|
XM_006722004.3:c.700G>T
|
XP_006722067.1:p.Val234Phe
|
|
XM_006722005.2:c.700G>T
|
XP_006722068.1:p.Val234Phe
|
|
XM_006722005.3:c.700G>T
|
XP_006722068.1:p.Val234Phe
|
|
XM_011525092.1:c.700G>T
|
XP_011523394.1:p.Val234Phe
|
|
XM_011525092.2:c.700G>T
|
XP_011523394.1:p.Val234Phe
|
|
XM_011525093.1:c.700G>T
|
XP_011523395.1:p.Val234Phe
|
|
XM_011525093.2:c.700G>T
|
XP_011523395.1:p.Val234Phe
|
|
XM_011525094.1:c.700G>T
|
XP_011523396.1:p.Val234Phe
|
|
XM_011525094.2:c.700G>T
|
XP_011523396.1:p.Val234Phe
|
|
XM_017024914.1:c.697G>T
|
XP_016880403.1:p.Val233Phe
|
|
XM_017024915.1:c.697G>T
|
XP_016880404.1:p.Val233Phe
|
|
XM_017024916.1:c.697G>T
|
XP_016880405.1:p.Val233Phe
|
|
XM_017024917.1:c.697G>T
|
XP_016880406.1:p.Val233Phe
|
|
XM_017024918.2:c.697G>T
|
XP_016880407.1:p.Val233Phe
|
|
XM_017024919.1:c.636G>T
|
XP_016880408.1:p.Leu212=
|
|
XR_934513.1:n.1266G>T
|
|
|
XR_934513.3:n.1697G>T
|
|
|
XR_934514.1:n.1269G>T
|
|
|
XR_934514.3:n.1700G>T
|
|
|
XR_934886.1:n.149+3932C>A
|
|
|
XR_934886.2:n.149+3932C>A
|
|
