|
ENST00000415928.6:c.665+1028G>C
|
ENSP00000388838.2:n.665+1028G>C
|
|
|
ENST00000435065.7:c.739G>C
|
ENSP00000402760.2:p.Gly247Arg
|
|
|
ENST00000448810.6:c.667G>C
|
ENSP00000401860.2:p.Gly223Arg
|
|
|
ENST00000686757.1:c.686G>C
|
ENSP00000510721.1:p.Trp229Ser
|
|
|
ENST00000687740.1:n.1827G>C
|
|
|
|
ENST00000688151.1:n.1859G>C
|
|
|
|
ENST00000689271.1:c.671+1022G>C
|
ENSP00000510797.1:n.671+1022G>C
|
|
|
ENST00000690900.1:c.672-34G>C
|
ENSP00000510703.1:n.672-34G>C
|
|
|
ENST00000692212.1:n.493G>C
|
|
|
|
ENST00000692355.1:c.204+1041G>C
|
|
|
|
ENST00000692413.1:c.686G>C
|
ENSP00000509374.1:p.Trp229Ser
|
|
|
ENST00000692825.1:c.735G>C
|
ENSP00000509447.1:n.735G>C
|
|
|
ENST00000693308.1:c.680G>C
|
ENSP00000509770.1:p.Trp227Ser
|
|
|
ENST00000693763.1:n.1827G>C
|
|
|
|
ENST00000245407.8:c.667G>C
MANE Select
|
ENSP00000245407.3:p.Gly223Arg
|
|
|
ENST00000245407.7:c.667G>C
|
ENSP00000245407.3:p.Gly223Arg
|
|
|
ENST00000415928.5:c.436G>C
|
ENSP00000388838.1:p.Gly146Arg
|
|
|
ENST00000435065.6:c.739G>C
|
ENSP00000402760.2:p.Gly247Arg
|
|
|
ENST00000437841.6:c.408G>C
|
ENSP00000400553.1:p.Leu136Phe
|
|
|
ENST00000448810.5:c.15G>C
|
|
|
|
ENST00000461013.5:n.8089G>C
|
|
|
|
NM_001308122.1:c.739G>C
|
NP_001295051.1:p.Gly247Arg
|
|
|
NM_003060.3:c.667G>C
|
NP_003051.1:p.Gly223Arg
|
|
|
XM_011543590.1:c.49G>C
|
XP_011541892.1:p.Gly17Arg
|
|
|
XR_427718.1:n.1027G>C
|
|
|
|
XR_948290.1:n.1008G>C
|
|
|
|
XR_948291.1:n.1021G>C
|
|
|
|
XM_011543590.2:c.49G>C
|
XP_011541892.1:p.Gly17Arg
|
|
|
XM_017009778.2:c.139G>C
|
XP_016865267.1:p.Gly47Arg
|
|
|
XR_001742215.1:n.1008G>C
|
|
|
|
XR_001742216.1:n.1027G>C
|
|
|
|
XR_427718.2:n.1027G>C
|
|
|
|
XR_948290.2:n.1008G>C
|
|
|
|
XR_948291.2:n.1021G>C
|
|
|
|
NM_003060.4:c.667G>C
MANE Select
|
NP_003051.1:p.Gly223Arg
|
|
|
NM_001308122.2:c.739G>C
|
NP_001295051.1:p.Gly247Arg
|
|
