|
ENST00000504307.3:n.547-3216G>A
(H1-9P)
|
|
|
|
ENST00000504073.2:c.970C>T
(SGCA)
|
ENSP00000422030.2:p.Arg324Cys
|
|
|
ENST00000504307.2:n.492-3216G>A
(H1-9P)
|
|
|
|
ENST00000511303.6:n.455+18C>T
(SGCA)
|
|
|
|
ENST00000682109.1:c.1000C>T
(SGCA)
|
ENSP00000508041.1:p.Arg334Cys
|
|
|
ENST00000683226.1:n.1718C>T
(SGCA)
|
|
|
|
ENST00000683294.1:c.*223C>T
(SGCA)
|
ENSP00000508134.1:n.*223C>T
|
|
|
ENST00000683544.1:n.774C>T
(SGCA)
|
|
|
|
ENST00000262018.8:c.1120C>T
(SGCA)
MANE Select
|
ENSP00000262018.3:p.Arg374Cys
|
|
|
ENST00000262018.7:c.1120C>T
(SGCA)
|
ENSP00000262018.3:p.Arg374Cys
|
|
|
ENST00000344627.10:c.748C>T
(SGCA)
|
ENSP00000345522.6:p.Arg250Cys
|
|
|
ENST00000504073.1:c.437C>T
(SGCA)
|
|
|
|
ENST00000504307.1:n.470-3216G>A
(H1-9P)
|
|
|
|
ENST00000505964.1:n.221C>T
(SGCA)
|
|
|
|
ENST00000508382.1:n.165C>T
(SGCA)
|
|
|
|
ENST00000511303.5:c.451+18C>T
(SGCA)
|
ENSP00000426104.1:n.451+18C>T
|
|
|
ENST00000513821.5:c.*14C>T
(SGCA)
|
ENSP00000426571.1:n.*14C>T
|
|
|
ENST00000513942.5:n.539C>T
(SGCA)
|
|
|
|
NM_000023.2:c.1120C>T , LRG_203t1:c.1120C>T
(SGCA)
|
NP_000014.1:p.Arg374Cys
|
|
|
NM_001135697.1:c.748C>T
(SGCA)
|
NP_001129169.1:p.Arg250Cys
|
|
|
XM_011525120.1:c.1102+18C>T
(SGCA)
|
XP_011523422.1:n.1102+18C>T
|
|
|
XM_011525121.1:c.952+18C>T
(SGCA)
|
XP_011523423.1:n.952+18C>T
|
|
|
XM_011525122.1:c.893+18C>T
(SGCA)
|
XP_011523424.1:n.893+18C>T
|
|
|
XM_011525123.1:c.730+18C>T
(SGCA)
|
XP_011523425.1:n.730+18C>T
|
|
|
XM_011525124.1:c.796+18C>T
(SGCA)
|
XP_011523426.1:n.796+18C>T
|
|
|
XR_934517.1:n.977C>T
(SGCA)
|
|
|
|
NM_000023.3:c.1120C>T
(SGCA)
|
NP_000014.1:p.Arg374Cys
|
|
|
NM_001135697.2:c.748C>T
(SGCA)
|
NP_001129169.1:p.Arg250Cys
|
|
|
NR_135553.1:n.967C>T
(SGCA)
|
|
|
|
XM_011525120.2:c.1264+18C>T
(SGCA)
|
XP_011523422.2:n.1264+18C>T
|
|
|
XM_011525121.2:c.1114+18C>T
(SGCA)
|
XP_011523423.2:n.1114+18C>T
|
|
|
XM_011525122.2:c.1055+18C>T
(SGCA)
|
XP_011523424.2:n.1055+18C>T
|
|
|
XM_011525123.2:c.892+18C>T
(SGCA)
|
XP_011523425.2:n.892+18C>T
|
|
|
XM_011525124.2:c.796+18C>T
(SGCA)
|
XP_011523426.1:n.796+18C>T
|
|
|
XM_024450873.1:c.814C>T
(SGCA)
|
XP_024306641.1:p.Arg272Cys
|
|
|
XR_002958056.1:n.1717C>T
(SGCA)
|
|
|
|
NM_000023.4:c.1120C>T
(SGCA)
MANE Select
|
NP_000014.1:p.Arg374Cys
|
|
|
NM_001135697.3:c.748C>T
(SGCA)
|
NP_001129169.1:p.Arg250Cys
|
|
|
NR_135553.2:n.947C>T
(SGCA)
|
|
|
