|
NM_000052.7:c.2453C>T
(ATP7A)
MANE Select
|
NP_000043.4:p.Thr818Ile
|
|
ENST00000341514.11:c.2453C>T
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Thr818Ile
|
|
NM_000052.6:c.2453C>T
(ATP7A)
|
NP_000043.4:p.Thr818Ile
|
|
NM_001282224.1:c.2219C>T
(ATP7A)
|
NP_001269153.1:p.Thr740Ile
|
|
NM_001282224.2:c.2219C>T
(ATP7A)
|
NP_001269153.1:p.Thr740Ile
|
|
NR_104109.1:n.322-16692C>T
(ATP7A)
|
|
|
NR_104109.2:n.285-16692C>T
(ATP7A)
|
|
|
ENST00000341514.10:c.2453C>T
(ATP7A)
|
ENSP00000345728.6:p.Thr818Ile
|
|
ENST00000343533.10:c.2483C>T
(ATP7A)
|
ENSP00000343026.6:p.Thr828Ile
|
|
ENST00000343533.9:c.2219C>T
(ATP7A)
|
ENSP00000343026.5:p.Thr740Ile
|
|
ENST00000350425.5:c.*1626C>T
(ATP7A)
|
ENSP00000343678.5:n.*1626C>T
|
|
ENST00000644362.1:c.-19-95159C>T
(PGK1)
|
ENSP00000496140.1:n.-19-95159C>T
|
|
ENST00000645094.1:c.*2367C>T
(ATP7A)
|
ENSP00000493605.1:n.*2367C>T
|
|
ENST00000682475.1:n.870C>T
(ATP7A)
|
|
|
ENST00000685033.1:c.47C>T
(ATP7A)
|
ENSP00000509269.1:p.Thr16Ile
|
|
ENST00000685264.1:c.2453C>T
(ATP7A)
|
ENSP00000510136.1:p.Thr818Ile
|
|
ENST00000686033.1:c.2453C>T
(ATP7A)
|
ENSP00000510693.1:p.Thr818Ile
|
|
ENST00000686133.1:c.2453C>T
(ATP7A)
|
ENSP00000509233.1:p.Thr818Ile
|
|
ENST00000686255.1:n.1484C>T
(ATP7A)
|
|
|
ENST00000686480.1:c.2219C>T
(ATP7A)
|
ENSP00000508978.1:p.Thr740Ile
|
|
ENST00000686543.1:c.2219C>T
(ATP7A)
|
ENSP00000509477.1:p.Thr740Ile
|
|
ENST00000686688.1:c.2453C>T
(ATP7A)
|
ENSP00000509416.1:p.Thr818Ile
|
|
ENST00000687086.1:c.2453C>T
(ATP7A)
|
ENSP00000509566.1:p.Thr818Ile
|
|
ENST00000689514.1:n.495C>T
(ATP7A)
|
|
|
ENST00000689530.1:c.2453C>T
(ATP7A)
|
ENSP00000509707.1:p.Thr818Ile
|
|
ENST00000689649.1:c.2453C>T
(ATP7A)
|
ENSP00000509277.1:p.Thr818Ile
|
|
ENST00000689767.1:c.2546C>T
(ATP7A)
|
ENSP00000509406.1:p.Thr849Ile
|
|
ENST00000689872.1:c.*402C>T
(ATP7A)
|
ENSP00000509373.1:n.*402C>T
|
|
ENST00000692908.1:c.2219C>T
(ATP7A)
|
ENSP00000508627.1:p.Thr740Ile
|
|
ENST00000693398.1:c.2453C>T
(ATP7A)
|
ENSP00000510089.1:p.Thr818Ile
|
