ENST00000525083.6:n.1207G>T
|
|
|
ENST00000532101.6:n.826G>T
|
|
|
ENST00000532125.2:c.721G>T
|
ENSP00000434178.2:p.Glu241Ter
|
|
ENST00000533839.6:c.86-375G>T
|
ENSP00000509952.1:n.86-375G>T
|
|
ENST00000534011.6:n.1016G>T
|
|
|
ENST00000685484.1:c.724G>T
|
ENSP00000510622.1:p.Glu242Ter
|
|
ENST00000685601.1:c.724G>T
|
ENSP00000510603.1:p.Glu242Ter
|
|
ENST00000685765.1:c.724G>T
|
ENSP00000509991.1:p.Glu242Ter
|
|
ENST00000685844.1:c.*261G>T
|
ENSP00000509820.1:n.*261G>T
|
|
ENST00000685857.1:n.1463G>T
|
|
|
ENST00000686242.1:c.523G>T
|
ENSP00000508950.1:n.523G>T
|
|
ENST00000686888.1:c.*291G>T
|
ENSP00000509619.1:n.*291G>T
|
|
ENST00000687699.1:c.848G>T
|
ENSP00000508878.1:n.848G>T
|
|
ENST00000687786.1:n.2160G>T
|
|
|
ENST00000688100.1:n.1645G>T
|
|
|
ENST00000688588.1:c.724G>T
|
ENSP00000510802.1:p.Glu242Ter
|
|
ENST00000688927.1:n.2935G>T
|
|
|
ENST00000689283.1:c.*387G>T
|
ENSP00000509050.1:n.*387G>T
|
|
ENST00000689477.1:c.*617G>T
|
ENSP00000508945.1:n.*617G>T
|
|
ENST00000689765.1:c.*217G>T
|
ENSP00000509625.1:n.*217G>T
|
|
ENST00000690512.1:c.*575G>T
|
ENSP00000509793.1:n.*575G>T
|
|
ENST00000692039.1:c.*522G>T
|
ENSP00000508821.1:n.*522G>T
|
|
ENST00000692336.1:c.748G>T
|
ENSP00000508540.1:p.Glu250Ter
|
|
ENST00000693133.1:n.1204G>T
|
|
|
ENST00000263578.10:c.724G>T
MANE Select
|
ENSP00000263578.5:p.Glu242Ter
|
|
ENST00000263578.9:c.724G>T
|
ENSP00000263578.5:p.Glu242Ter
|
|
ENST00000525083.5:n.444G>T
|
|
|
ENST00000525770.5:c.*356G>T
|
ENSP00000434739.1:n.*356G>T
|
|
ENST00000527004.5:c.*68G>T
|
ENSP00000436374.1:n.*68G>T
|
|
ENST00000530642.1:n.1506G>T
|
|
|
ENST00000532101.5:n.947G>T
|
|
|
ENST00000532125.1:c.682G>T
|
ENSP00000434178.1:p.Glu228Ter
|
|
ENST00000533395.5:n.457G>T
|
|
|
ENST00000533839.5:n.238-375G>T
|
|
|
ENST00000534011.5:n.776G>T
|
|
|
ENST00000534315.5:n.1036G>T
|
|
|
NM_017547.3:c.724G>T
|
NP_060017.1:p.Glu242Ter
|
|
NR_037647.1:n.670G>T
|
|
|
NR_037648.1:n.910G>T
|
|
|
XM_006718879.2:c.214G>T
|
XP_006718942.1:p.Glu72Ter
|
|
XM_006718880.2:c.91G>T
|
XP_006718943.1:p.Glu31Ter
|
|
XM_006718881.2:c.91G>T
|
XP_006718944.1:p.Glu31Ter
|
|
XM_011542895.1:c.214G>T
|
XP_011541197.1:p.Glu72Ter
|
|
XM_011542896.1:c.214G>T
|
XP_011541198.1:p.Glu72Ter
|
|
XM_006718879.3:c.214G>T
|
XP_006718942.1:p.Glu72Ter
|
|
XM_006718881.3:c.91G>T
|
XP_006718944.1:p.Glu31Ter
|
|
XM_011542895.2:c.214G>T
|
XP_011541197.1:p.Glu72Ter
|
|
XM_011542896.2:c.214G>T
|
XP_011541198.1:p.Glu72Ter
|
|
XM_017018000.2:c.724G>T
|
XP_016873489.1:p.Glu242Ter
|
|
XM_017018001.1:c.214G>T
|
XP_016873490.1:p.Glu72Ter
|
|
XM_017018002.1:c.214G>T
|
XP_016873491.1:p.Glu72Ter
|
|
XM_017018003.2:c.91G>T
|
XP_016873492.1:p.Glu31Ter
|
|
XM_017018004.1:c.91G>T
|
XP_016873493.1:p.Glu31Ter
|
|
XM_017018005.1:c.91G>T
|
XP_016873494.1:p.Glu31Ter
|
|
XM_017018006.2:c.91G>T
|
XP_016873495.1:p.Glu31Ter
|
|
NM_017547.4:c.724G>T
MANE Select
|
NP_060017.1:p.Glu242Ter
|
|
NR_037647.2:n.556G>T
|
|
|
NR_037648.2:n.901G>T
|
|
|