|
ENST00000380649.8:c.2142G>T
(HADHA)
MANE Select
|
ENSP00000370023.3:p.Leu714=
|
|
|
ENST00000492433.2:c.2142G>T
(HADHA)
|
ENSP00000438039.2:p.Leu714=
|
|
|
ENST00000643057.1:c.*2033G>T
(HADHA)
|
ENSP00000493761.1:n.*2033G>T
|
|
|
ENST00000643063.1:c.*1188G>T
(HADHA)
|
ENSP00000495353.1:n.*1188G>T
|
|
|
ENST00000643233.1:c.*2033G>T
(HADHA)
|
ENSP00000493880.1:n.*2033G>T
|
|
|
ENST00000644428.1:c.*766G>T
(HADHA)
|
ENSP00000495560.1:n.*766G>T
|
|
|
ENST00000645274.1:c.2037G>T
(HADHA)
|
ENSP00000493996.1:p.Leu679=
|
|
|
ENST00000646031.1:c.1501G>T
(HADHA)
|
|
|
|
ENST00000646483.1:c.2008G>T
(HADHA)
|
ENSP00000496185.1:n.2008G>T
|
|
|
ENST00000380649.7:c.2142G>T
(HADHA)
|
ENSP00000370023.3:p.Leu714=
|
|
|
ENST00000492433.1:c.600G>T
(HADHA)
|
ENSP00000438039.1:p.Leu200=
|
|
|
NM_000182.4:c.2142G>T
(HADHA)
|
NP_000173.2:p.Leu714=
|
|
|
XM_011532567.1:c.1683+4172C>A
(GAREM2)
|
XP_011530869.1:n.1683+4172C>A
|
|
|
XM_011532567.3:c.1683+4172C>A
(GAREM2)
|
XP_011530869.1:n.1683+4172C>A
|
|
|
NM_000182.5:c.2142G>T
(HADHA)
MANE Select
|
NP_000173.2:p.Leu714=
|
|
