|
ENST00000415928.6:c.968G>C
|
ENSP00000388838.2:p.Cys323Ser
|
|
|
ENST00000435065.7:c.1199G>C
|
ENSP00000402760.2:p.Cys400Ser
|
|
|
ENST00000448810.6:c.1053-12G>C
|
ENSP00000401860.2:n.1053-12G>C
|
|
|
ENST00000685543.1:n.1268G>C
|
|
|
|
ENST00000686757.1:c.*291G>C
|
ENSP00000510721.1:n.*291G>C
|
|
|
ENST00000687740.1:n.3812G>C
|
|
|
|
ENST00000688151.1:n.2437G>C
|
|
|
|
ENST00000689271.1:c.974G>C
|
ENSP00000510797.1:p.Cys325Ser
|
|
|
ENST00000690900.1:c.*291G>C
|
ENSP00000510703.1:n.*291G>C
|
|
|
ENST00000692212.1:n.2739G>C
|
|
|
|
ENST00000692355.1:c.380G>C
|
|
|
|
ENST00000692413.1:c.1109G>C
|
ENSP00000509374.1:p.Cys370Ser
|
|
|
ENST00000692825.1:c.1195G>C
|
ENSP00000509447.1:n.1195G>C
|
|
|
ENST00000693308.1:c.1175G>C
|
ENSP00000509770.1:p.Cys392Ser
|
|
|
ENST00000693763.1:n.2287G>C
|
|
|
|
ENST00000245407.8:c.1127G>C
MANE Select
|
ENSP00000245407.3:p.Cys376Ser
|
|
|
ENST00000245407.7:c.1127G>C
|
ENSP00000245407.3:p.Cys376Ser
|
|
|
ENST00000435065.6:c.1199G>C
|
ENSP00000402760.2:p.Cys400Ser
|
|
|
ENST00000447841.5:c.112-1669G>C
|
|
|
|
ENST00000448810.5:c.401-12G>C
|
|
|
|
ENST00000461013.5:n.8549G>C
|
|
|
|
ENST00000475308.1:n.1805G>C
|
|
|
|
ENST00000479605.5:n.230G>C
|
|
|
|
NM_001308122.1:c.1199G>C
|
NP_001295051.1:p.Cys400Ser
|
|
|
NM_003060.3:c.1127G>C
|
NP_003051.1:p.Cys376Ser
|
|
|
XM_011543590.1:c.509G>C
|
XP_011541892.1:p.Cys170Ser
|
|
|
XR_427718.1:n.1487G>C
|
|
|
|
XR_948290.1:n.1394-1669G>C
|
|
|
|
XR_948291.1:n.1481G>C
|
|
|
|
XM_011543590.2:c.509G>C
|
XP_011541892.1:p.Cys170Ser
|
|
|
XM_017009778.2:c.599G>C
|
XP_016865267.1:p.Cys200Ser
|
|
|
XR_001742215.1:n.1394-12G>C
|
|
|
|
XR_001742216.1:n.1413-12G>C
|
|
|
|
XR_427718.2:n.1487G>C
|
|
|
|
XR_948290.2:n.1394-1669G>C
|
|
|
|
XR_948291.2:n.1481G>C
|
|
|
|
NM_003060.4:c.1127G>C
MANE Select
|
NP_003051.1:p.Cys376Ser
|
|
|
NM_001308122.2:c.1199G>C
|
NP_001295051.1:p.Cys400Ser
|
|
