|
NM_000918.4:c.1453G>C
MANE Select
|
NP_000909.2:p.Glu485Gln
|
|
ENST00000331483.9:c.1453G>C
MANE Select
|
ENSP00000327801.4:p.Glu485Gln
|
|
NM_000918.3:c.1453G>C
|
NP_000909.2:p.Glu485Gln
|
|
ENST00000331483.8:c.1453G>C
|
ENSP00000327801.4:p.Glu485Gln
|
|
ENST00000415593.5:c.749G>C
|
|
|
ENST00000415593.6:c.1183G>C
|
ENSP00000388117.2:p.Glu395Gln
|
|
ENST00000439918.6:c.1321G>C
|
ENSP00000388374.2:p.Glu441Gln
|
|
ENST00000439918.7:c.1321G>C
|
ENSP00000388374.2:p.Glu441Gln
|
|
ENST00000466567.3:n.7288G>C
|
|
|
ENST00000472244.6:n.1483G>C
|
|
|
ENST00000473021.1:n.320G>C
|
|
|
ENST00000473021.2:n.1093G>C
|
|
|
ENST00000474712.2:n.2645G>C
|
|
|
ENST00000476482.1:n.640G>C
|
|
|
ENST00000476482.2:n.767G>C
|
|
|
ENST00000477607.7:n.1645G>C
|
|
|
ENST00000484286.2:n.1775G>C
|
|
|
ENST00000570907.6:c.1554G>C
|
ENSP00000461362.2:p.Ser518=
|
|
ENST00000571507.5:n.356G>C
|
|
|
ENST00000571507.6:n.761G>C
|
|
|
ENST00000571617.1:c.424G>C
|
ENSP00000458300.1:p.Glu142Gln
|
|
ENST00000571617.2:c.1327G>C
|
ENSP00000458300.2:p.Glu443Gln
|
|
ENST00000574914.2:c.1345G>C
|
ENSP00000460612.2:p.Glu449Gln
|
|
ENST00000575069.5:c.*1268G>C
|
ENSP00000459211.1:n.*1268G>C
|
|
ENST00000575069.6:c.*1268G>C
|
ENSP00000459211.1:n.*1268G>C
|
|
ENST00000576390.5:c.234-486G>C
|
ENSP00000461718.1:n.234-486G>C
|
|
ENST00000576390.6:c.1332G>C
|
ENSP00000461718.2:p.Ser444=
|
|
ENST00000679366.1:c.*966G>C
|
ENSP00000506375.1:n.*966G>C
|
|
ENST00000679396.1:n.1910G>C
|
|
|
ENST00000679439.1:c.1366G>C
|
ENSP00000505377.1:p.Glu456Gln
|
|
ENST00000679455.1:c.*1264G>C
|
ENSP00000505971.1:n.*1264G>C
|
|
ENST00000679470.1:n.1857G>C
|
|
|
ENST00000679628.1:n.3213G>C
|
|
|
ENST00000679688.1:c.*1074G>C
|
ENSP00000505272.1:n.*1074G>C
|
|
ENST00000679889.1:c.*636G>C
|
ENSP00000506718.1:n.*636G>C
|
|
ENST00000680076.1:n.1679G>C
|
|
|
ENST00000680083.1:c.*1187G>C
|
ENSP00000505575.1:n.*1187G>C
|
|
ENST00000680105.1:c.*1241G>C
|
ENSP00000506284.1:n.*1241G>C
|
|
ENST00000680191.1:c.1528G>C
|
ENSP00000506544.1:p.Glu510Gln
|
|
ENST00000680208.1:n.2015G>C
|
|
|
ENST00000680226.1:c.1506G>C
|
ENSP00000505635.1:p.Ser502=
|
|
ENST00000680259.1:c.*1954G>C
|
ENSP00000504869.1:n.*1954G>C
|
|
ENST00000680368.1:n.4353G>C
|
|
|
ENST00000680400.1:c.484G>C
|
ENSP00000505382.1:p.Glu162Gln
|
|
ENST00000680416.1:c.*1752G>C
|
ENSP00000506306.1:n.*1752G>C
|
|
ENST00000680547.1:n.2612G>C
|
|
|
ENST00000680559.1:n.2899G>C
|
|
|
ENST00000680593.1:c.1387G>C
|
ENSP00000505754.1:p.Glu463Gln
|
|
ENST00000680719.1:n.1969G>C
|
|
|
ENST00000680732.1:c.*911G>C
|
ENSP00000505727.1:n.*911G>C
|
|
ENST00000680799.1:n.3011G>C
|
|
|
ENST00000680838.1:n.2144G>C
|
|
|
ENST00000680846.1:c.*1074G>C
|
ENSP00000506612.1:n.*1074G>C
|
|
ENST00000680847.1:c.*941G>C
|
ENSP00000506451.1:n.*941G>C
|
|
ENST00000680884.1:c.1555G>C
|
ENSP00000505953.1:p.Glu519Gln
|
|
ENST00000680909.1:c.*1780G>C
|
ENSP00000505545.1:n.*1780G>C
|
|
ENST00000680914.1:c.1393G>C
|
ENSP00000505149.1:p.Glu465Gln
|
|
ENST00000681020.1:c.*830G>C
|
ENSP00000506014.1:n.*830G>C
|
|
ENST00000681030.1:c.*1706G>C
|
ENSP00000505707.1:n.*1706G>C
|
|
ENST00000681031.1:c.*1242G>C
|
ENSP00000505466.1:n.*1242G>C
|
|
ENST00000681068.1:n.2093G>C
|
|
|
ENST00000681161.1:c.1246G>C
|
ENSP00000505659.1:p.Glu416Gln
|
|
ENST00000681259.1:n.2468G>C
|
|
|
ENST00000681420.1:c.*86G>C
|
ENSP00000505993.1:n.*86G>C
|
|
ENST00000681485.1:n.1686G>C
|
|
|
ENST00000681515.1:c.*856G>C
|
ENSP00000505872.1:n.*856G>C
|
|
ENST00000681566.1:c.*764G>C
|
ENSP00000506218.1:n.*764G>C
|
|
ENST00000681571.1:n.2527G>C
|
|
|
ENST00000681614.1:n.1847G>C
|
|
|
ENST00000681693.1:c.1372G>C
|
ENSP00000505096.1:p.Glu458Gln
|
|
ENST00000681760.1:c.*1268G>C
|
ENSP00000506555.1:n.*1268G>C
|
|
ENST00000681835.1:n.3257G>C
|
|
|
ENST00000681872.1:n.3000G>C
|
|
|
ENST00000681933.1:c.*1270G>C
|
ENSP00000504864.1:n.*1270G>C
|
|
ENST00000681954.1:n.2960G>C
|
|
|
XM_024450777.1:c.1581G>C
|
XP_024306545.1:p.Ser527=
|
|
XR_002958014.1:n.1847G>C
|
|
