ENST00000343533.10:c.2819T>C
(ATP7A)
|
ENSP00000343026.6:p.Ile940Thr
|
|
ENST00000682475.1:n.1206T>C
(ATP7A)
|
|
|
ENST00000685033.1:c.375+554T>C
(ATP7A)
|
ENSP00000509269.1:n.375+554T>C
|
|
ENST00000685264.1:c.2789T>C
(ATP7A)
|
ENSP00000510136.1:p.Ile930Thr
|
|
ENST00000686033.1:c.2789T>C
(ATP7A)
|
ENSP00000510693.1:p.Ile930Thr
|
|
ENST00000686133.1:c.2789T>C
(ATP7A)
|
ENSP00000509233.1:p.Ile930Thr
|
|
ENST00000686255.1:n.1820T>C
(ATP7A)
|
|
|
ENST00000686543.1:c.2555T>C
(ATP7A)
|
ENSP00000509477.1:p.Ile852Thr
|
|
ENST00000687086.1:c.2789T>C
(ATP7A)
|
ENSP00000509566.1:p.Ile930Thr
|
|
ENST00000689514.1:n.831T>C
(ATP7A)
|
|
|
ENST00000689530.1:c.2789T>C
(ATP7A)
|
ENSP00000509707.1:p.Ile930Thr
|
|
ENST00000689767.1:c.2882T>C
(ATP7A)
|
ENSP00000509406.1:p.Ile961Thr
|
|
ENST00000692908.1:c.2555T>C
(ATP7A)
|
ENSP00000508627.1:p.Ile852Thr
|
|
ENST00000341514.11:c.2789T>C
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Ile930Thr
|
|
ENST00000644362.1:c.-19-88915T>C
(PGK1)
|
ENSP00000496140.1:n.-19-88915T>C
|
|
ENST00000645094.1:c.*2703T>C
(ATP7A)
|
ENSP00000493605.1:n.*2703T>C
|
|
ENST00000341514.10:c.2789T>C
(ATP7A)
|
ENSP00000345728.6:p.Ile930Thr
|
|
ENST00000343533.9:c.2555T>C
(ATP7A)
|
ENSP00000343026.5:p.Ile852Thr
|
|
ENST00000350425.5:c.*1962T>C
(ATP7A)
|
ENSP00000343678.5:n.*1962T>C
|
|
NM_000052.6:c.2789T>C
(ATP7A)
|
NP_000043.4:p.Ile930Thr
|
|
NM_001282224.1:c.2555T>C
(ATP7A)
|
NP_001269153.1:p.Ile852Thr
|
|
NR_104109.1:n.322-10448T>C
(ATP7A)
|
|
|
NM_000052.7:c.2789T>C
(ATP7A)
MANE Select
|
NP_000043.4:p.Ile930Thr
|
|
NR_104109.2:n.285-10448T>C
(ATP7A)
|
|
|
NM_001282224.2:c.2555T>C
(ATP7A)
|
NP_001269153.1:p.Ile852Thr
|
|