ENST00000461271.6:c.157G>C
|
ENSP00000464056.2:p.Val53Leu
|
|
ENST00000697675.1:n.3105G>C
|
|
|
ENST00000697676.1:n.568G>C
|
|
|
ENST00000697677.1:n.1589G>C
|
|
|
ENST00000697678.1:n.410G>C
|
|
|
ENST00000697679.1:n.1582G>C
|
|
|
ENST00000697680.1:c.*1372G>C
|
ENSP00000513392.1:n.*1372G>C
|
|
ENST00000697681.1:c.*1399G>C
|
ENSP00000513393.1:n.*1399G>C
|
|
ENST00000697683.1:c.*1372G>C
|
ENSP00000513395.1:n.*1372G>C
|
|
ENST00000697684.1:n.568G>C
|
|
|
ENST00000697685.1:c.*1268+1607G>C
|
ENSP00000513396.1:n.*1268+1607G>C
|
|
ENST00000697686.1:c.157G>C
|
ENSP00000513397.1:p.Val53Leu
|
|
ENST00000697687.1:n.450+1607G>C
|
|
|
ENST00000697688.1:n.554G>C
|
|
|
ENST00000697689.1:c.*1107+1607G>C
|
ENSP00000513398.1:n.*1107+1607G>C
|
|
ENST00000697690.1:c.508G>C
|
ENSP00000513399.1:p.Val170Leu
|
|
ENST00000697691.1:c.*480G>C
|
ENSP00000513400.1:n.*480G>C
|
|
ENST00000697692.1:c.*520G>C
|
ENSP00000513401.1:n.*520G>C
|
|
ENST00000697694.1:c.157G>C
|
ENSP00000513402.1:p.Val53Leu
|
|
ENST00000697695.1:n.1115G>C
|
|
|
ENST00000337432.9:c.508G>C
MANE Select
|
ENSP00000336701.4:p.Val170Leu
|
|
ENST00000337432.8:c.508G>C
|
ENSP00000336701.4:p.Val170Leu
|
|
ENST00000413590.5:c.146G>C
|
|
|
ENST00000425173.5:c.304G>C
|
ENSP00000407282.1:p.Val102Leu
|
|
ENST00000461271.5:c.157G>C
|
ENSP00000464056.1:p.Val53Leu
|
|
ENST00000475762.5:c.*1211G>C
|
ENSP00000432421.1:n.*1211G>C
|
|
ENST00000482007.5:c.404+1607G>C
|
ENSP00000433332.1:n.404+1607G>C
|
|
ENST00000487525.5:c.404+1607G>C
|
ENSP00000431637.1:n.404+1607G>C
|
|
ENST00000487921.5:n.420G>C
|
|
|
ENST00000583539.5:c.508G>C
|
ENSP00000463121.1:p.Val170Leu
|
|
ENST00000584617.5:c.230G>C
|
|
|
ENST00000622327.4:c.244G>C
|
ENSP00000482326.1:p.Val82Leu
|
|
NM_058216.2:c.508G>C
|
NP_478123.1:p.Val170Leu
|
|
NR_103872.1:n.475+1607G>C
|
|
|
XM_006722001.2:c.508G>C
|
XP_006722064.1:p.Val170Leu
|
|
XM_006722002.2:c.508G>C
|
XP_006722065.1:p.Val170Leu
|
|
XM_006722004.2:c.157G>C
|
XP_006722067.1:p.Val53Leu
|
|
XM_006722005.2:c.157G>C
|
XP_006722068.1:p.Val53Leu
|
|
XM_011525092.1:c.157G>C
|
XP_011523394.1:p.Val53Leu
|
|
XM_011525093.1:c.157G>C
|
XP_011523395.1:p.Val53Leu
|
|
XM_011525094.1:c.157G>C
|
XP_011523396.1:p.Val53Leu
|
|
XR_934513.1:n.581G>C
|
|
|
XR_934514.1:n.581G>C
|
|
|
XM_006722001.4:c.508G>C
|
XP_006722064.1:p.Val170Leu
|
|
XM_006722002.4:c.508G>C
|
XP_006722065.1:p.Val170Leu
|
|
XM_006722004.3:c.157G>C
|
XP_006722067.1:p.Val53Leu
|
|
XM_006722005.3:c.157G>C
|
XP_006722068.1:p.Val53Leu
|
|
XM_011525092.2:c.157G>C
|
XP_011523394.1:p.Val53Leu
|
|
XM_011525093.2:c.157G>C
|
XP_011523395.1:p.Val53Leu
|
|
XM_011525094.2:c.157G>C
|
XP_011523396.1:p.Val53Leu
|
|
XM_017024914.1:c.157G>C
|
XP_016880403.1:p.Val53Leu
|
|
XM_017024915.1:c.157G>C
|
XP_016880404.1:p.Val53Leu
|
|
XM_017024916.1:c.157G>C
|
XP_016880405.1:p.Val53Leu
|
|
XM_017024917.1:c.157G>C
|
XP_016880406.1:p.Val53Leu
|
|
XM_017024918.2:c.157G>C
|
XP_016880407.1:p.Val53Leu
|
|
XM_017024919.1:c.157G>C
|
XP_016880408.1:p.Val53Leu
|
|
XR_934513.3:n.1012G>C
|
|
|
XR_934514.3:n.1012G>C
|
|
|
NM_058216.3:c.508G>C
MANE Select
|
NP_478123.1:p.Val170Leu
|
|
NR_103872.2:n.446+1607G>C
|
|
|