|
ENST00000473665.2:n.5919A>T
|
|
|
|
ENST00000482662.2:n.4326A>T
|
|
|
|
ENST00000685865.1:n.2278A>T
|
|
|
|
ENST00000687250.1:n.1978A>T
|
|
|
|
ENST00000687995.1:n.1793A>T
|
|
|
|
ENST00000688205.1:c.*1034A>T
|
ENSP00000509673.1:n.*1034A>T
|
|
|
ENST00000688788.1:n.1680A>T
|
|
|
|
ENST00000689276.1:c.1372A>T
|
ENSP00000510012.1:p.Ile458Phe
|
|
|
ENST00000689576.1:c.*60A>T
|
ENSP00000508712.1:n.*60A>T
|
|
|
ENST00000690108.1:c.*1097A>T
|
ENSP00000510617.1:n.*1097A>T
|
|
|
ENST00000690468.1:c.1010A>T
|
ENSP00000509078.1:p.Asp337Val
|
|
|
ENST00000690595.1:c.766A>T
|
ENSP00000508979.1:p.Ile256Phe
|
|
|
ENST00000691348.1:c.1118A>T
|
ENSP00000509369.1:p.Asp373Val
|
|
|
ENST00000691410.1:c.*1018A>T
|
ENSP00000508479.1:n.*1018A>T
|
|
|
ENST00000693287.1:c.757A>T
|
ENSP00000510264.1:p.Ile253Phe
|
|
|
ENST00000693681.1:c.754A>T
|
ENSP00000510789.1:p.Ile252Phe
|
|
|
ENST00000233838.9:c.1441A>T
MANE Select
|
ENSP00000233838.3:p.Ile481Phe
|
|
|
ENST00000233838.8:c.1441A>T
|
ENSP00000233838.3:p.Ile481Phe
|
|
|
ENST00000430215.7:c.1270A>T
|
ENSP00000408045.3:p.Ile424Phe
|
|
|
ENST00000465637.5:n.179-3976A>T
|
|
|
|
NM_000821.5:c.1441A>T
|
NP_000812.2:p.Ile481Phe
|
|
|
NM_000821.6:c.1441A>T
|
NP_000812.2:p.Ile481Phe
|
|
|
NM_001142269.2:c.1270A>T
|
NP_001135741.1:p.Ile424Phe
|
|
|
NM_001142269.3:c.1270A>T
|
NP_001135741.1:p.Ile424Phe
|
|
|
XM_005264259.3:c.1441A>T
|
XP_005264316.1:p.Ile481Phe
|
|
|
XM_011532764.1:c.619A>T
|
XP_011531066.1:p.Ile207Phe
|
|
|
XM_011532765.1:c.619A>T
|
XP_011531067.1:p.Ile207Phe
|
|
|
XR_939677.1:n.1354A>T
|
|
|
|
XM_005264259.5:c.1441A>T
|
XP_005264316.1:p.Ile481Phe
|
|
|
XM_011532764.3:c.619A>T
|
XP_011531066.1:p.Ile207Phe
|
|
|
XM_011532765.3:c.619A>T
|
XP_011531067.1:p.Ile207Phe
|
|
|
XM_017003803.2:c.1270A>T
|
XP_016859292.1:p.Ile424Phe
|
|
|
XR_001738703.2:n.1354A>T
|
|
|
|
NM_000821.7:c.1441A>T
MANE Select
|
NP_000812.2:p.Ile481Phe
|
|
|
NM_001142269.4:c.1270A>T
|
NP_001135741.1:p.Ile424Phe
|
|
