ENST00000415928.6:c.690G>C
|
ENSP00000388838.2:p.Trp230Cys
|
|
ENST00000435065.7:c.921G>C
|
ENSP00000402760.2:p.Trp307Cys
|
|
ENST00000448810.6:c.849G>C
|
ENSP00000401860.2:p.Trp283Cys
|
|
ENST00000686757.1:c.*13G>C
|
ENSP00000510721.1:n.*13G>C
|
|
ENST00000687740.1:n.3534G>C
|
|
|
ENST00000688151.1:n.2159G>C
|
|
|
ENST00000689271.1:c.696G>C
|
ENSP00000510797.1:p.Trp232Cys
|
|
ENST00000690900.1:c.*13G>C
|
ENSP00000510703.1:n.*13G>C
|
|
ENST00000692212.1:n.793G>C
|
|
|
ENST00000692355.1:c.205-1872G>C
|
|
|
ENST00000692413.1:c.844-13G>C
|
ENSP00000509374.1:n.844-13G>C
|
|
ENST00000692825.1:c.917G>C
|
ENSP00000509447.1:n.917G>C
|
|
ENST00000693308.1:c.897G>C
|
ENSP00000509770.1:p.Trp299Cys
|
|
ENST00000693763.1:n.2009G>C
|
|
|
ENST00000245407.8:c.849G>C
MANE Select
|
ENSP00000245407.3:p.Trp283Cys
|
|
ENST00000245407.7:c.849G>C
|
ENSP00000245407.3:p.Trp283Cys
|
|
ENST00000415928.5:c.618G>C
|
ENSP00000388838.1:p.Trp206Cys
|
|
ENST00000435065.6:c.921G>C
|
ENSP00000402760.2:p.Trp307Cys
|
|
ENST00000437841.6:c.*164G>C
|
ENSP00000400553.1:n.*164G>C
|
|
ENST00000448810.5:c.197G>C
|
|
|
ENST00000461013.5:n.8271G>C
|
|
|
NM_001308122.1:c.921G>C
|
NP_001295051.1:p.Trp307Cys
|
|
NM_003060.3:c.849G>C
|
NP_003051.1:p.Trp283Cys
|
|
XM_011543590.1:c.231G>C
|
XP_011541892.1:p.Trp77Cys
|
|
XR_427718.1:n.1209G>C
|
|
|
XR_948290.1:n.1190G>C
|
|
|
XR_948291.1:n.1203G>C
|
|
|
XM_011543590.2:c.231G>C
|
XP_011541892.1:p.Trp77Cys
|
|
XM_017009778.2:c.321G>C
|
XP_016865267.1:p.Trp107Cys
|
|
XR_001742215.1:n.1190G>C
|
|
|
XR_001742216.1:n.1209G>C
|
|
|
XR_427718.2:n.1209G>C
|
|
|
XR_948290.2:n.1190G>C
|
|
|
XR_948291.2:n.1203G>C
|
|
|
NM_003060.4:c.849G>C
MANE Select
|
NP_003051.1:p.Trp283Cys
|
|
NM_001308122.2:c.921G>C
|
NP_001295051.1:p.Trp307Cys
|
|