|
ENST00000473665.2:n.5191C>A
|
|
|
|
ENST00000482662.2:n.3598C>A
|
|
|
|
ENST00000685865.1:n.1550C>A
|
|
|
|
ENST00000687250.1:n.1250C>A
|
|
|
|
ENST00000687995.1:n.1499C>A
|
|
|
|
ENST00000688205.1:c.*740C>A
|
ENSP00000509673.1:n.*740C>A
|
|
|
ENST00000688788.1:n.1386C>A
|
|
|
|
ENST00000689276.1:c.1078C>A
|
ENSP00000510012.1:p.Leu360Ile
|
|
|
ENST00000689576.1:c.1147C>A
|
ENSP00000508712.1:p.Leu383Ile
|
|
|
ENST00000690108.1:c.*803C>A
|
ENSP00000510617.1:n.*803C>A
|
|
|
ENST00000690468.1:c.868C>A
|
ENSP00000509078.1:p.Leu290Ile
|
|
|
ENST00000690595.1:c.472C>A
|
ENSP00000508979.1:p.Leu158Ile
|
|
|
ENST00000691348.1:c.976C>A
|
ENSP00000509369.1:p.Leu326Ile
|
|
|
ENST00000691410.1:c.*724C>A
|
ENSP00000508479.1:n.*724C>A
|
|
|
ENST00000693287.1:c.463C>A
|
ENSP00000510264.1:p.Leu155Ile
|
|
|
ENST00000693681.1:c.460C>A
|
ENSP00000510789.1:p.Leu154Ile
|
|
|
ENST00000233838.9:c.1147C>A
MANE Select
|
ENSP00000233838.3:p.Leu383Ile
|
|
|
ENST00000233838.8:c.1147C>A
|
ENSP00000233838.3:p.Leu383Ile
|
|
|
ENST00000430215.7:c.976C>A
|
ENSP00000408045.3:p.Leu326Ile
|
|
|
ENST00000465637.5:n.179-5236C>A
|
|
|
|
ENST00000473665.1:n.640C>A
|
|
|
|
ENST00000482662.1:n.564C>A
|
|
|
|
NM_000821.5:c.1147C>A
|
NP_000812.2:p.Leu383Ile
|
|
|
NM_000821.6:c.1147C>A
|
NP_000812.2:p.Leu383Ile
|
|
|
NM_001142269.2:c.976C>A
|
NP_001135741.1:p.Leu326Ile
|
|
|
NM_001142269.3:c.976C>A
|
NP_001135741.1:p.Leu326Ile
|
|
|
XM_005264259.3:c.1147C>A
|
XP_005264316.1:p.Leu383Ile
|
|
|
XM_011532764.1:c.325C>A
|
XP_011531066.1:p.Leu109Ile
|
|
|
XM_011532765.1:c.325C>A
|
XP_011531067.1:p.Leu109Ile
|
|
|
XR_939677.1:n.1212C>A
|
|
|
|
XM_005264259.5:c.1147C>A
|
XP_005264316.1:p.Leu383Ile
|
|
|
XM_011532764.3:c.325C>A
|
XP_011531066.1:p.Leu109Ile
|
|
|
XM_011532765.3:c.325C>A
|
XP_011531067.1:p.Leu109Ile
|
|
|
XM_017003803.2:c.976C>A
|
XP_016859292.1:p.Leu326Ile
|
|
|
XR_001738703.2:n.1212C>A
|
|
|
|
NM_000821.7:c.1147C>A
MANE Select
|
NP_000812.2:p.Leu383Ile
|
|
|
NM_001142269.4:c.976C>A
|
NP_001135741.1:p.Leu326Ile
|
|
