ENST00000698234.1:n.1108G>C
|
|
|
ENST00000698317.1:n.1724G>C
|
|
|
ENST00000698318.1:n.1507G>C
|
|
|
ENST00000698319.1:n.870G>C
|
|
|
ENST00000698320.1:n.758G>C
|
|
|
ENST00000470127.2:n.771G>C
|
|
|
ENST00000475699.6:c.547G>C
|
ENSP00000419854.3:p.Gly183Arg
|
|
ENST00000483674.3:n.465G>C
|
|
|
ENST00000601016.6:c.583G>C
MANE Select
|
ENSP00000469981.1:p.Gly195Arg
|
|
ENST00000612012.5:c.541+123G>C
|
ENSP00000482070.2:n.541+123G>C
|
|
ENST00000612460.5:c.493G>C
|
ENSP00000481037.1:p.Gly165Arg
|
|
ENST00000614595.2:n.1930G>C
|
|
|
ENST00000615658.5:n.887G>C
|
|
|
ENST00000616020.5:c.595+123G>C
|
ENSP00000483636.2:n.595+123G>C
|
|
ENST00000617701.5:c.*311G>C
|
ENSP00000481645.1:n.*311G>C
|
|
ENST00000652354.1:c.265+123G>C
|
ENSP00000498734.1:n.265+123G>C
|
|
ENST00000652358.1:c.376G>C
|
ENSP00000498464.1:p.Gly126Arg
|
|
ENST00000652390.1:c.502G>C
|
ENSP00000498858.1:p.Gly168Arg
|
|
ENST00000652476.1:n.964G>C
|
|
|
ENST00000652644.1:c.196G>C
|
ENSP00000498496.1:p.Gly66Arg
|
|
ENST00000652682.1:c.640G>C
|
ENSP00000498288.1:p.Gly214Arg
|
|
ENST00000652685.1:n.651G>C
|
|
|
ENST00000369776.8:c.376+123G>C
|
ENSP00000358791.4:n.376+123G>C
|
|
ENST00000426231.5:c.580G>C
|
|
|
ENST00000439735.2:c.490G>C
|
ENSP00000398193.1:p.Gly164Arg
|
|
ENST00000470127.1:n.162G>C
|
|
|
ENST00000475699.5:c.541+123G>C
|
ENSP00000419854.2:n.541+123G>C
|
|
ENST00000476679.5:n.577G>C
|
|
|
ENST00000483780.5:n.348G>C
|
|
|
ENST00000494912.5:n.1272G>C
|
|
|
ENST00000601016.5:c.583G>C
|
ENSP00000469981.1:p.Gly195Arg
|
|
ENST00000612012.4:c.547G>C
|
ENSP00000482070.1:p.Gly183Arg
|
|
ENST00000612460.4:c.493G>C
|
ENSP00000481037.1:p.Gly165Arg
|
|
ENST00000613002.4:c.451+123G>C
|
ENSP00000478154.1:n.451+123G>C
|
|
ENST00000613634.4:n.813G>C
|
|
|
ENST00000615658.4:n.987G>C
|
|
|
ENST00000615986.4:c.*311G>C
|
ENSP00000480133.1:n.*311G>C
|
|
ENST00000620808.4:c.*170-286G>C
|
ENSP00000479311.1:n.*170-286G>C
|
|
NM_000116.4:c.583G>C
|
NP_000107.1:p.Gly195Arg
|
|
NM_001303465.1:c.595+123G>C
|
NP_001290394.1:n.595+123G>C
|
|
NM_181311.3:c.493G>C
|
NP_851828.1:p.Gly165Arg
|
|
NM_181312.3:c.541+123G>C
|
NP_851829.1:n.541+123G>C
|
|
NM_181313.3:c.451+123G>C
|
NP_851830.1:n.451+123G>C
|
|
NR_024048.2:n.925G>C
|
|
|
XM_006724836.1:c.637G>C
|
XP_006724899.1:p.Gly213Arg
|
|
XM_006724837.1:c.505+123G>C
|
XP_006724900.1:n.505+123G>C
|
|
XM_006724839.1:c.505+123G>C
|
XP_006724902.1:n.505+123G>C
|
|
XM_006724841.2:c.376G>C
|
XP_006724904.1:p.Gly126Arg
|
|
XM_006724842.2:c.286G>C
|
XP_006724905.1:p.Gly96Arg
|
|
XM_011531189.1:c.425-286G>C
|
XP_011529491.1:n.425-286G>C
|
|
XM_011531190.1:c.376G>C
|
XP_011529492.1:p.Gly126Arg
|
|
XM_011531191.1:c.307G>C
|
XP_011529493.1:p.Gly103Arg
|
|
XM_011531192.1:c.304G>C
|
XP_011529494.1:p.Gly102Arg
|
|
XR_938511.1:n.931G>C
|
|
|
XM_006724841.4:c.376G>C
|
XP_006724904.1:p.Gly126Arg
|
|
XM_006724842.4:c.286G>C
|
XP_006724905.1:p.Gly96Arg
|
|
XM_011531191.2:c.307G>C
|
XP_011529493.1:p.Gly103Arg
|
|
XM_017029761.1:c.451+123G>C
|
XP_016885250.1:n.451+123G>C
|
|
XM_017029762.1:c.547G>C
|
XP_016885251.1:p.Gly183Arg
|
|
XM_017029763.1:c.371-286G>C
|
XP_016885252.1:n.371-286G>C
|
|
XM_017029764.1:c.304G>C
|
XP_016885253.1:p.Gly102Arg
|
|
XM_017029765.2:c.244+123G>C
|
XP_016885254.1:n.244+123G>C
|
|
XM_024452431.1:c.425-286G>C
|
XP_024308199.1:n.425-286G>C
|
|
NM_000116.5:c.583G>C
MANE Select
|
NP_000107.1:p.Gly195Arg
|
|
NM_001303465.2:c.595+123G>C
|
NP_001290394.1:n.595+123G>C
|
|
NM_181311.4:c.493G>C
|
NP_851828.1:p.Gly165Arg
|
|
NM_181312.4:c.541+123G>C
|
NP_851829.1:n.541+123G>C
|
|
NM_181313.4:c.451+123G>C
|
NP_851830.1:n.451+123G>C
|
|
NR_024048.3:n.904G>C
|
|
|