|
ENST00000682064.1:n.1760T>C
|
|
|
|
ENST00000682235.1:n.1556T>C
|
|
|
|
ENST00000682461.1:c.1639T>C
|
ENSP00000507308.1:n.1639T>C
|
|
|
ENST00000682653.1:n.3842T>C
|
|
|
|
ENST00000682721.1:c.*1336T>C
|
ENSP00000507535.1:n.*1336T>C
|
|
|
ENST00000682843.1:c.*1174T>C
|
ENSP00000508173.1:n.*1174T>C
|
|
|
ENST00000683133.1:c.1717T>C
|
ENSP00000508108.1:n.1717T>C
|
|
|
ENST00000683243.1:c.*686T>C
|
ENSP00000507042.1:n.*686T>C
|
|
|
ENST00000683463.1:c.*1022T>C
|
ENSP00000507986.1:n.*1022T>C
|
|
|
ENST00000683548.1:n.1991T>C
|
|
|
|
ENST00000683579.1:c.*1431T>C
|
ENSP00000506867.1:n.*1431T>C
|
|
|
ENST00000683587.1:n.2064T>C
|
|
|
|
ENST00000683681.1:c.*211T>C
|
ENSP00000508110.1:n.*211T>C
|
|
|
ENST00000683735.1:c.*1931T>C
|
ENSP00000508336.1:n.*1931T>C
|
|
|
ENST00000683853.1:c.*1643T>C
|
ENSP00000506834.1:n.*1643T>C
|
|
|
ENST00000683860.1:c.*653T>C
|
ENSP00000507179.1:n.*653T>C
|
|
|
ENST00000684125.1:c.*193T>C
|
ENSP00000507320.1:n.*193T>C
|
|
|
ENST00000684203.1:n.3982T>C
|
|
|
|
ENST00000684231.1:c.*943T>C
|
ENSP00000507748.1:n.*943T>C
|
|
|
ENST00000684263.1:c.*1157T>C
|
ENSP00000508369.1:n.*1157T>C
|
|
|
ENST00000684305.1:c.1981T>C
|
ENSP00000506819.1:n.1981T>C
|
|
|
ENST00000684602.1:c.*1199T>C
|
ENSP00000507996.1:n.*1199T>C
|
|
|
ENST00000684667.1:c.1864T>C
|
ENSP00000507003.1:n.1864T>C
|
|
|
ENST00000268097.10:c.1533T>C
MANE Select
|
ENSP00000268097.6:p.Gly511=
|
|
|
ENST00000268097.9:c.1533T>C
|
ENSP00000268097.5:p.Gly511=
|
|
|
ENST00000379915.4:c.608+1312T>C
|
ENSP00000478716.1:n.608+1312T>C
|
|
|
ENST00000564677.5:n.325T>C
|
|
|
|
ENST00000565873.1:n.444T>C
|
|
|
|
ENST00000566304.5:c.1566T>C
|
ENSP00000455114.1:p.Gly522=
|
|
|
ENST00000567411.5:c.*1054T>C
|
ENSP00000455545.1:n.*1054T>C
|
|
|
NM_000520.4:c.1533T>C
|
NP_000511.2:p.Gly511=
|
|
|
NM_000520.5:c.1533T>C
|
NP_000511.2:p.Gly511=
|
|
|
NM_001318825.1:c.1566T>C
|
NP_001305754.1:p.Gly522=
|
|
|
NM_000520.6:c.1533T>C
MANE Select
|
NP_000511.2:p.Gly511=
|
|
|
NM_001318825.2:c.1566T>C
|
NP_001305754.1:p.Gly522=
|
|
