|
ENST00000504780.6:c.*552T>C
(PGM3)
|
ENSP00000421154.2:n.*552T>C
|
|
|
ENST00000505470.6:c.*2362T>C
(PGM3)
|
ENSP00000423769.1:n.*2362T>C
|
|
|
ENST00000507554.2:c.1601T>C
(PGM3)
|
ENSP00000425558.2:p.Ile534Thr
|
|
|
ENST00000508748.6:c.1685T>C
(PGM3)
|
ENSP00000424865.2:p.Ile562Thr
|
|
|
ENST00000651204.2:c.*339T>C
(PGM3)
|
ENSP00000498912.2:n.*339T>C
|
|
|
ENST00000651698.2:c.*552T>C
(PGM3)
|
ENSP00000498398.2:n.*552T>C
|
|
|
ENST00000652222.2:c.1502T>C
(PGM3)
|
ENSP00000499141.2:p.Ile501Thr
|
|
|
ENST00000698524.1:c.1601T>C
(PGM3)
|
ENSP00000513773.1:p.Ile534Thr
|
|
|
ENST00000698525.1:c.*998T>C
(PGM3)
|
ENSP00000513774.1:n.*998T>C
|
|
|
ENST00000698526.1:c.*998T>C
(PGM3)
|
ENSP00000513775.1:n.*998T>C
|
|
|
ENST00000698599.1:c.1601T>C
(PGM3)
|
ENSP00000513827.1:p.Ile534Thr
|
|
|
ENST00000698600.1:c.*552T>C
(PGM3)
|
ENSP00000513828.1:n.*552T>C
|
|
|
ENST00000698601.1:c.*1180T>C
(PGM3)
|
ENSP00000513829.1:n.*1180T>C
|
|
|
ENST00000698602.1:c.1601T>C
(PGM3)
|
ENSP00000513830.1:p.Ile534Thr
|
|
|
ENST00000698603.1:c.*1377T>C
(PGM3)
|
ENSP00000513831.1:n.*1377T>C
|
|
|
ENST00000698604.1:c.*1139T>C
(PGM3)
|
ENSP00000513832.1:n.*1139T>C
|
|
|
ENST00000698605.1:c.*1381T>C
(PGM3)
|
ENSP00000513833.1:n.*1381T>C
|
|
|
ENST00000698606.1:n.3450T>C
(PGM3)
|
|
|
|
ENST00000698607.1:c.*2026T>C
(PGM3)
|
ENSP00000513834.1:n.*2026T>C
|
|
|
ENST00000698608.1:c.1259T>C
(PGM3)
|
ENSP00000513835.1:p.Ile420Thr
|
|
|
ENST00000698609.1:c.*2059T>C
(PGM3)
|
ENSP00000513836.1:n.*2059T>C
|
|
|
ENST00000698610.1:c.1358T>C
(PGM3)
|
ENSP00000513837.1:p.Ile453Thr
|
|
|
ENST00000698611.1:n.5238T>C
(PGM3)
|
|
|
|
ENST00000698612.1:c.1163T>C
(PGM3)
|
ENSP00000513838.1:p.Ile388Thr
|
|
|
ENST00000698613.1:c.*998T>C
(PGM3)
|
ENSP00000513839.1:n.*998T>C
|
|
|
ENST00000698614.1:c.*1533T>C
(PGM3)
|
ENSP00000513840.1:n.*1533T>C
|
|
|
ENST00000698615.1:c.*1200T>C
(PGM3)
|
ENSP00000513841.1:n.*1200T>C
|
|
|
ENST00000283977.9:c.*36T>C
(PGM3)
|
ENSP00000283977.5:n.*36T>C
|
|
|
ENST00000513973.6:c.1601T>C
(PGM3)
MANE Select
|
ENSP00000424874.1:p.Ile534Thr
|
|
|
ENST00000616566.5:c.1235T>C
(PGM3)
|
ENSP00000477539.2:p.Ile412Thr
|
|
|
ENST00000650640.1:c.*585T>C
(PGM3)
|
ENSP00000498423.1:n.*585T>C
|
|
|
ENST00000650642.1:c.1478T>C
(PGM3)
|
ENSP00000498516.1:p.Ile493Thr
|
|
|
ENST00000651204.1:c.1097T>C
(PGM3)
|
|
|
|
ENST00000651425.1:c.1358T>C
(PGM3)
|
ENSP00000498986.1:p.Ile453Thr
|
|
|
ENST00000651698.1:c.715T>C
(PGM3)
|
|
|
|
ENST00000652222.1:c.1256T>C
(PGM3)
|
ENSP00000499141.1:p.Ile419Thr
|
|
|
ENST00000283977.8:c.1358T>C
(PGM3)
|
ENSP00000283977.4:p.Ile453Thr
|
|
|
ENST00000484282.1:n.4355-216A>G
(DOP1A)
|
|
|
|
ENST00000504780.5:c.313T>C
(PGM3)
|
|
|
|
ENST00000506587.5:c.1685T>C
(PGM3)
|
ENSP00000425809.1:p.Ile562Thr
|
|
|
ENST00000512866.5:c.1601T>C
(PGM3)
|
ENSP00000421565.1:p.Ile534Thr
|
|
|
ENST00000513973.5:c.1601T>C
(PGM3)
|
ENSP00000424874.1:p.Ile534Thr
|
|
|
ENST00000616566.4:c.*36T>C
(PGM3)
|
ENSP00000477539.1:n.*36T>C
|
|
|
NM_001199917.1:c.1685T>C
(PGM3)
|
NP_001186846.1:p.Ile562Thr
|
|
|
NM_001199918.1:c.*36T>C
(PGM3)
|
NP_001186847.1:n.*36T>C
|
|
|
NM_001199919.1:c.1601T>C
(PGM3)
|
NP_001186848.1:p.Ile534Thr
|
|
|
NM_015599.2:c.1601T>C
(PGM3)
|
NP_056414.1:p.Ile534Thr
|
|
|
XM_011535901.1:c.1685T>C
(PGM3)
|
XP_011534203.1:p.Ile562Thr
|
|
|
XM_011535902.1:c.1685T>C
(PGM3)
|
XP_011534204.1:p.Ile562Thr
|
|
|
XM_011535903.1:c.1685T>C
(PGM3)
|
XP_011534205.1:p.Ile562Thr
|
|
|
XR_942476.1:n.1842T>C
(PGM3)
|
|
|
|
XR_942477.1:n.1827T>C
(PGM3)
|
|
|
|
XR_942478.1:n.1691T>C
(PGM3)
|
|
|
|
XR_942479.1:n.1717T>C
(PGM3)
|
|
|
|
XR_942480.1:n.1485T>C
(PGM3)
|
|
|
|
XM_011535619.2:c.*590-216A>G
(DOP1A)
|
XP_011533921.1:n.*590-216A>G
|
|
|
XM_017010559.1:c.*590-216A>G
(DOP1A)
|
XP_016866048.1:n.*590-216A>G
|
|
|
XM_017010560.2:c.*590-216A>G
(DOP1A)
|
XP_016866049.1:n.*590-216A>G
|
|
|
XM_017010561.1:c.*590-216A>G
(DOP1A)
|
XP_016866050.1:n.*590-216A>G
|
|
|
XM_017010562.2:c.*590-216A>G
(DOP1A)
|
XP_016866051.1:n.*590-216A>G
|
|
|
XM_017010564.1:c.*590-216A>G
(DOP1A)
|
XP_016866053.1:n.*590-216A>G
|
|
|
XM_017010566.1:c.*590-216A>G
(DOP1A)
|
XP_016866055.1:n.*590-216A>G
|
|
|
XM_017010570.1:c.*590-216A>G
(DOP1A)
|
XP_016866059.1:n.*590-216A>G
|
|
|
XM_017010571.1:c.*590-216A>G
(DOP1A)
|
XP_016866060.1:n.*590-216A>G
|
|
|
XM_017010572.1:c.*590-216A>G
(DOP1A)
|
XP_016866061.1:n.*590-216A>G
|
|
|
XM_017010935.1:c.1358T>C
(PGM3)
|
XP_016866424.1:p.Ile453Thr
|
|
|
XM_017010937.1:c.1235T>C
(PGM3)
|
XP_016866426.1:p.Ile412Thr
|
|
|
XM_024446459.1:c.1478T>C
(PGM3)
|
XP_024302227.1:p.Ile493Thr
|
|
|
XM_024446460.1:c.1685T>C
(PGM3)
|
XP_024302228.1:p.Ile562Thr
|
|
|
XR_001743468.2:n.1485T>C
(PGM3)
|
|
|
|
XR_942478.3:n.1691T>C
(PGM3)
|
|
|
|
XR_942480.2:n.1485T>C
(PGM3)
|
|
|
|
NM_001199917.2:c.1685T>C
(PGM3)
|
NP_001186846.1:p.Ile562Thr
|
|
|
NM_001367286.1:c.1478T>C
(PGM3)
|
NP_001354215.1:p.Ile493Thr
|
|
|
NM_001367287.1:c.1685T>C
(PGM3)
|
NP_001354216.1:p.Ile562Thr
|
|
|
NM_015599.3:c.1601T>C
(PGM3)
MANE Select
|
NP_056414.1:p.Ile534Thr
|
|
|
NR_159812.1:n.1690T>C
(PGM3)
|
|
|
|
NM_001199918.2:c.*36T>C
(PGM3)
|
NP_001186847.1:n.*36T>C
|
|
|
NM_001199919.2:c.1601T>C
(PGM3)
|
NP_001186848.1:p.Ile534Thr
|
|
|
NR_159812.2:n.1690T>C
(PGM3)
|
|
|
|
NR_169791.1:n.8216-216A>G
(DOP1A)
|
|
|
