ENST00000525083.6:n.304G>A
|
|
|
ENST00000532101.6:n.303G>A
|
|
|
ENST00000532125.2:c.126G>A
|
ENSP00000434178.2:p.Lys42=
|
|
ENST00000533839.6:c.85+2186G>A
|
ENSP00000509952.1:n.85+2186G>A
|
|
ENST00000534011.6:n.402G>A
|
|
|
ENST00000685484.1:c.126G>A
|
ENSP00000510622.1:p.Lys42=
|
|
ENST00000685601.1:c.126G>A
|
ENSP00000510603.1:p.Lys42=
|
|
ENST00000685765.1:c.126G>A
|
ENSP00000509991.1:p.Lys42=
|
|
ENST00000685844.1:c.86-1492G>A
|
ENSP00000509820.1:n.86-1492G>A
|
|
ENST00000685857.1:n.304G>A
|
|
|
ENST00000686242.1:c.86-1492G>A
|
ENSP00000508950.1:n.86-1492G>A
|
|
ENST00000686888.1:c.126G>A
|
ENSP00000509619.1:p.Lys42=
|
|
ENST00000687699.1:c.250G>A
|
ENSP00000508878.1:n.250G>A
|
|
ENST00000687786.1:n.1459G>A
|
|
|
ENST00000688588.1:c.126G>A
|
ENSP00000510802.1:p.Lys42=
|
|
ENST00000688927.1:n.304G>A
|
|
|
ENST00000689283.1:c.210-1492G>A
|
ENSP00000509050.1:n.210-1492G>A
|
|
ENST00000689477.1:c.*19G>A
|
ENSP00000508945.1:n.*19G>A
|
|
ENST00000689765.1:c.86-1492G>A
|
ENSP00000509625.1:n.86-1492G>A
|
|
ENST00000690512.1:c.86-1001G>A
|
ENSP00000509793.1:n.86-1001G>A
|
|
ENST00000692039.1:c.212G>A
|
ENSP00000508821.1:p.Ser71Asn
|
|
ENST00000692336.1:c.126G>A
|
ENSP00000508540.1:p.Lys42=
|
|
ENST00000693133.1:n.226-1492G>A
|
|
|
ENST00000263578.10:c.126G>A
MANE Select
|
ENSP00000263578.5:p.Lys42=
|
|
ENST00000263578.9:c.126G>A
|
ENSP00000263578.5:p.Lys42=
|
|
ENST00000524751.5:n.223-1492G>A
|
|
|
ENST00000525083.5:n.122-1492G>A
|
|
|
ENST00000525770.5:c.86-1492G>A
|
ENSP00000434739.1:n.86-1492G>A
|
|
ENST00000526366.5:n.101-242G>A
|
|
|
ENST00000526525.1:n.246-1492G>A
|
|
|
ENST00000527004.5:c.126G>A
|
ENSP00000436374.1:p.Lys42=
|
|
ENST00000529802.1:n.176G>A
|
|
|
ENST00000532101.5:n.349G>A
|
|
|
ENST00000532125.1:c.84G>A
|
ENSP00000434178.1:p.Lys28=
|
|
ENST00000533839.5:n.237+2186G>A
|
|
|
ENST00000534011.5:n.158-1001G>A
|
|
|
ENST00000534315.5:n.533G>A
|
|
|
NM_017547.3:c.126G>A
|
NP_060017.1:p.Lys42=
|
|
NR_037647.1:n.253-1492G>A
|
|
|
NR_037648.1:n.312G>A
|
|
|
XM_006718880.2:c.-413G>A
|
XP_006718943.1:n.-413G>A
|
|
XM_006718881.2:c.-232-1492G>A
|
XP_006718944.1:n.-232-1492G>A
|
|
XM_011542895.1:c.-385G>A
|
XP_011541197.1:n.-385G>A
|
|
XM_011542896.1:c.-405G>A
|
XP_011541198.1:n.-405G>A
|
|
XM_006718881.3:c.-232-1492G>A
|
XP_006718944.1:n.-232-1492G>A
|
|
XM_011542895.2:c.-385G>A
|
XP_011541197.1:n.-385G>A
|
|
XM_011542896.2:c.-405G>A
|
XP_011541198.1:n.-405G>A
|
|
XM_017018000.2:c.126G>A
|
XP_016873489.1:p.Lys42=
|
|
XM_017018001.1:c.-405G>A
|
XP_016873490.1:n.-405G>A
|
|
XM_017018002.1:c.-224-1492G>A
|
XP_016873491.1:n.-224-1492G>A
|
|
XM_017018003.2:c.-413G>A
|
XP_016873492.1:n.-413G>A
|
|
XM_017018004.1:c.-413G>A
|
XP_016873493.1:n.-413G>A
|
|
XM_017018005.1:c.-611G>A
|
XP_016873494.1:n.-611G>A
|
|
XM_017018006.2:c.-413G>A
|
XP_016873495.1:n.-413G>A
|
|
NM_017547.4:c.126G>A
MANE Select
|
NP_060017.1:p.Lys42=
|
|
NR_037647.2:n.139-1492G>A
|
|
|
NR_037648.2:n.303G>A
|
|
|