|
ENST00000415928.6:c.665+1124G>C
|
ENSP00000388838.2:n.665+1124G>C
|
|
|
ENST00000435065.7:c.835G>C
|
ENSP00000402760.2:p.Asp279His
|
|
|
ENST00000448810.6:c.763G>C
|
ENSP00000401860.2:p.Asp255His
|
|
|
ENST00000686757.1:c.782G>C
|
ENSP00000510721.1:p.Arg261Thr
|
|
|
ENST00000687740.1:n.1923G>C
|
|
|
|
ENST00000688151.1:n.1955G>C
|
|
|
|
ENST00000689271.1:c.671+1118G>C
|
ENSP00000510797.1:n.671+1118G>C
|
|
|
ENST00000690900.1:c.734G>C
|
ENSP00000510703.1:p.Arg245Thr
|
|
|
ENST00000692212.1:n.589G>C
|
|
|
|
ENST00000692355.1:c.204+1137G>C
|
|
|
|
ENST00000692413.1:c.782G>C
|
ENSP00000509374.1:p.Arg261Thr
|
|
|
ENST00000692825.1:c.831G>C
|
ENSP00000509447.1:n.831G>C
|
|
|
ENST00000693308.1:c.776G>C
|
ENSP00000509770.1:p.Arg259Thr
|
|
|
ENST00000693763.1:n.1923G>C
|
|
|
|
ENST00000245407.8:c.763G>C
MANE Select
|
ENSP00000245407.3:p.Asp255His
|
|
|
ENST00000245407.7:c.763G>C
|
ENSP00000245407.3:p.Asp255His
|
|
|
ENST00000415928.5:c.532G>C
|
ENSP00000388838.1:p.Asp178His
|
|
|
ENST00000435065.6:c.835G>C
|
ENSP00000402760.2:p.Asp279His
|
|
|
ENST00000437841.6:c.*78G>C
|
ENSP00000400553.1:n.*78G>C
|
|
|
ENST00000448810.5:c.111G>C
|
|
|
|
ENST00000461013.5:n.8185G>C
|
|
|
|
NM_001308122.1:c.835G>C
|
NP_001295051.1:p.Asp279His
|
|
|
NM_003060.3:c.763G>C
|
NP_003051.1:p.Asp255His
|
|
|
XM_011543590.1:c.145G>C
|
XP_011541892.1:p.Asp49His
|
|
|
XR_427718.1:n.1123G>C
|
|
|
|
XR_948290.1:n.1104G>C
|
|
|
|
XR_948291.1:n.1117G>C
|
|
|
|
XM_011543590.2:c.145G>C
|
XP_011541892.1:p.Asp49His
|
|
|
XM_017009778.2:c.235G>C
|
XP_016865267.1:p.Asp79His
|
|
|
XR_001742215.1:n.1104G>C
|
|
|
|
XR_001742216.1:n.1123G>C
|
|
|
|
XR_427718.2:n.1123G>C
|
|
|
|
XR_948290.2:n.1104G>C
|
|
|
|
XR_948291.2:n.1117G>C
|
|
|
|
NM_003060.4:c.763G>C
MANE Select
|
NP_003051.1:p.Asp255His
|
|
|
NM_001308122.2:c.835G>C
|
NP_001295051.1:p.Asp279His
|
|
