ENST00000698234.1:n.1569G>C
|
|
|
ENST00000698317.1:n.2185G>C
|
|
|
ENST00000698318.1:n.1968G>C
|
|
|
ENST00000698319.1:n.1331G>C
|
|
|
ENST00000698320.1:n.1219G>C
|
|
|
ENST00000470127.2:n.1232G>C
|
|
|
ENST00000475699.6:c.723G>C
|
ENSP00000419854.3:p.Arg241=
|
|
ENST00000483674.3:n.641G>C
|
|
|
ENST00000601016.6:c.759G>C
MANE Select
|
ENSP00000469981.1:p.Arg253=
|
|
ENST00000612012.5:c.717G>C
|
ENSP00000482070.2:p.Arg239=
|
|
ENST00000612460.5:c.669G>C
|
ENSP00000481037.1:p.Arg223=
|
|
ENST00000614595.2:n.2106G>C
|
|
|
ENST00000615658.5:n.1348G>C
|
|
|
ENST00000616020.5:c.771G>C
|
ENSP00000483636.2:p.Arg257=
|
|
ENST00000617701.5:c.*772G>C
|
ENSP00000481645.1:n.*772G>C
|
|
ENST00000651139.1:c.-25G>C
|
ENSP00000498957.1:n.-25G>C
|
|
ENST00000652354.1:c.441G>C
|
ENSP00000498734.1:p.Arg147=
|
|
ENST00000652358.1:c.552G>C
|
ENSP00000498464.1:p.Arg184=
|
|
ENST00000652390.1:c.678G>C
|
ENSP00000498858.1:p.Arg226=
|
|
ENST00000652476.1:n.1425G>C
|
|
|
ENST00000652644.1:c.372G>C
|
ENSP00000498496.1:p.Arg124=
|
|
ENST00000652682.1:c.816G>C
|
ENSP00000498288.1:p.Arg272=
|
|
ENST00000652685.1:n.1112G>C
|
|
|
ENST00000369776.8:c.669G>C
|
ENSP00000358791.4:p.Arg223=
|
|
ENST00000426231.5:c.756G>C
|
|
|
ENST00000475699.5:c.717G>C
|
ENSP00000419854.2:p.Arg239=
|
|
ENST00000494912.5:n.1448G>C
|
|
|
ENST00000498029.1:n.217G>C
|
|
|
ENST00000601016.5:c.759G>C
|
ENSP00000469981.1:p.Arg253=
|
|
ENST00000612460.4:c.669G>C
|
ENSP00000481037.1:p.Arg223=
|
|
ENST00000613002.4:c.627G>C
|
ENSP00000478154.1:p.Arg209=
|
|
ENST00000615986.4:c.*487G>C
|
ENSP00000480133.1:n.*487G>C
|
|
NM_000116.4:c.759G>C
|
NP_000107.1:p.Arg253=
|
|
NM_001303465.1:c.771G>C
|
NP_001290394.1:p.Arg257=
|
|
NM_181311.3:c.669G>C
|
NP_851828.1:p.Arg223=
|
|
NM_181312.3:c.717G>C
|
NP_851829.1:p.Arg239=
|
|
NM_181313.3:c.627G>C
|
NP_851830.1:p.Arg209=
|
|
NR_024048.2:n.1101G>C
|
|
|
XM_006724836.1:c.813G>C
|
XP_006724899.1:p.Arg271=
|
|
XM_006724837.1:c.798G>C
|
XP_006724900.1:p.Arg266=
|
|
XM_006724839.1:c.681G>C
|
XP_006724902.1:p.Arg227=
|
|
XM_006724841.2:c.552G>C
|
XP_006724904.1:p.Arg184=
|
|
XM_006724842.2:c.462G>C
|
XP_006724905.1:p.Arg154=
|
|
XM_011531189.1:c.600G>C
|
XP_011529491.1:p.Arg200=
|
|
XM_011531190.1:c.552G>C
|
XP_011529492.1:p.Arg184=
|
|
XM_011531191.1:c.483G>C
|
XP_011529493.1:p.Arg161=
|
|
XM_011531192.1:c.480G>C
|
XP_011529494.1:p.Arg160=
|
|
XR_938511.1:n.1107G>C
|
|
|
XM_006724841.4:c.552G>C
|
XP_006724904.1:p.Arg184=
|
|
XM_006724842.4:c.462G>C
|
XP_006724905.1:p.Arg154=
|
|
XM_011531191.2:c.483G>C
|
XP_011529493.1:p.Arg161=
|
|
XM_017029761.1:c.744G>C
|
XP_016885250.1:p.Arg248=
|
|
XM_017029762.1:c.723G>C
|
XP_016885251.1:p.Arg241=
|
|
XM_017029763.1:c.546G>C
|
XP_016885252.1:p.Arg182=
|
|
XM_017029764.1:c.480G>C
|
XP_016885253.1:p.Arg160=
|
|
XM_017029765.2:c.420G>C
|
XP_016885254.1:p.Arg140=
|
|
XM_024452431.1:c.717G>C
|
XP_024308199.1:p.Arg239=
|
|
NM_000116.5:c.759G>C
MANE Select
|
NP_000107.1:p.Arg253=
|
|
NM_001303465.2:c.771G>C
|
NP_001290394.1:p.Arg257=
|
|
NM_181311.4:c.669G>C
|
NP_851828.1:p.Arg223=
|
|
NM_181312.4:c.717G>C
|
NP_851829.1:p.Arg239=
|
|
NM_181313.4:c.627G>C
|
NP_851830.1:p.Arg209=
|
|
NR_024048.3:n.1080G>C
|
|
|