ENST00000525083.6:n.739G>C
|
|
|
ENST00000532101.6:n.734-376G>C
|
|
|
ENST00000532125.2:c.558G>C
|
ENSP00000434178.2:p.Leu186=
|
|
ENST00000533839.6:c.86-843G>C
|
ENSP00000509952.1:n.86-843G>C
|
|
ENST00000534011.6:n.853G>C
|
|
|
ENST00000685484.1:c.561G>C
|
ENSP00000510622.1:p.Leu187=
|
|
ENST00000685601.1:c.561G>C
|
ENSP00000510603.1:p.Leu187=
|
|
ENST00000685765.1:c.561G>C
|
ENSP00000509991.1:p.Leu187=
|
|
ENST00000685844.1:c.*169-376G>C
|
ENSP00000509820.1:n.*169-376G>C
|
|
ENST00000685857.1:n.995G>C
|
|
|
ENST00000686242.1:c.360G>C
|
ENSP00000508950.1:n.360G>C
|
|
ENST00000686888.1:c.*128G>C
|
ENSP00000509619.1:n.*128G>C
|
|
ENST00000687699.1:c.685G>C
|
ENSP00000508878.1:n.685G>C
|
|
ENST00000687786.1:n.2068-376G>C
|
|
|
ENST00000688100.1:n.1482G>C
|
|
|
ENST00000688588.1:c.561G>C
|
ENSP00000510802.1:p.Leu187=
|
|
ENST00000688927.1:n.2467G>C
|
|
|
ENST00000689283.1:c.*224G>C
|
ENSP00000509050.1:n.*224G>C
|
|
ENST00000689477.1:c.*454G>C
|
ENSP00000508945.1:n.*454G>C
|
|
ENST00000689765.1:c.*169-420G>C
|
ENSP00000509625.1:n.*169-420G>C
|
|
ENST00000690512.1:c.*412G>C
|
ENSP00000509793.1:n.*412G>C
|
|
ENST00000692039.1:c.*359G>C
|
ENSP00000508821.1:n.*359G>C
|
|
ENST00000692336.1:c.585G>C
|
ENSP00000508540.1:p.Leu195=
|
|
ENST00000693133.1:n.736G>C
|
|
|
ENST00000263578.10:c.561G>C
MANE Select
|
ENSP00000263578.5:p.Leu187=
|
|
ENST00000263578.9:c.561G>C
|
ENSP00000263578.5:p.Leu187=
|
|
ENST00000524751.5:n.497G>C
|
|
|
ENST00000525083.5:n.352-376G>C
|
|
|
ENST00000525770.5:c.*193G>C
|
ENSP00000434739.1:n.*193G>C
|
|
ENST00000526366.5:n.492G>C
|
|
|
ENST00000527004.5:c.534-376G>C
|
ENSP00000436374.1:n.534-376G>C
|
|
ENST00000527875.1:n.391G>C
|
|
|
ENST00000530642.1:n.1038G>C
|
|
|
ENST00000532101.5:n.784G>C
|
|
|
ENST00000532125.1:c.519G>C
|
ENSP00000434178.1:p.Leu173=
|
|
ENST00000533395.5:n.365-376G>C
|
|
|
ENST00000533839.5:n.238-843G>C
|
|
|
ENST00000534011.5:n.613G>C
|
|
|
ENST00000534315.5:n.944-376G>C
|
|
|
NM_017547.3:c.561G>C
|
NP_060017.1:p.Leu187=
|
|
NR_037647.1:n.507G>C
|
|
|
NR_037648.1:n.747G>C
|
|
|
XM_006718879.2:c.51G>C
|
XP_006718942.1:p.Leu17=
|
|
XM_006718880.2:c.-2-376G>C
|
XP_006718943.1:n.-2-376G>C
|
|
XM_006718881.2:c.-2-376G>C
|
XP_006718944.1:n.-2-376G>C
|
|
XM_011542895.1:c.51G>C
|
XP_011541197.1:p.Leu17=
|
|
XM_011542896.1:c.51G>C
|
XP_011541198.1:p.Leu17=
|
|
XM_006718879.3:c.51G>C
|
XP_006718942.1:p.Leu17=
|
|
XM_006718881.3:c.-2-376G>C
|
XP_006718944.1:n.-2-376G>C
|
|
XM_011542895.2:c.51G>C
|
XP_011541197.1:p.Leu17=
|
|
XM_011542896.2:c.51G>C
|
XP_011541198.1:p.Leu17=
|
|
XM_017018000.2:c.561G>C
|
XP_016873489.1:p.Leu187=
|
|
XM_017018001.1:c.51G>C
|
XP_016873490.1:p.Leu17=
|
|
XM_017018002.1:c.51G>C
|
XP_016873491.1:p.Leu17=
|
|
XM_017018003.2:c.-2-376G>C
|
XP_016873492.1:n.-2-376G>C
|
|
XM_017018004.1:c.-2-376G>C
|
XP_016873493.1:n.-2-376G>C
|
|
XM_017018005.1:c.-2-376G>C
|
XP_016873494.1:n.-2-376G>C
|
|
XM_017018006.2:c.-2-376G>C
|
XP_016873495.1:n.-2-376G>C
|
|
NM_017547.4:c.561G>C
MANE Select
|
NP_060017.1:p.Leu187=
|
|
NR_037647.2:n.393G>C
|
|
|
NR_037648.2:n.738G>C
|
|
|