ENST00000343533.10:c.2812G>C
(ATP7A)
|
ENSP00000343026.6:p.Ala938Pro
|
|
ENST00000682475.1:n.1199G>C
(ATP7A)
|
|
|
ENST00000685033.1:c.375+547G>C
(ATP7A)
|
ENSP00000509269.1:n.375+547G>C
|
|
ENST00000685264.1:c.2782G>C
(ATP7A)
|
ENSP00000510136.1:p.Ala928Pro
|
|
ENST00000686033.1:c.2782G>C
(ATP7A)
|
ENSP00000510693.1:p.Ala928Pro
|
|
ENST00000686133.1:c.2782G>C
(ATP7A)
|
ENSP00000509233.1:p.Ala928Pro
|
|
ENST00000686255.1:n.1813G>C
(ATP7A)
|
|
|
ENST00000686543.1:c.2548G>C
(ATP7A)
|
ENSP00000509477.1:p.Ala850Pro
|
|
ENST00000687086.1:c.2782G>C
(ATP7A)
|
ENSP00000509566.1:p.Ala928Pro
|
|
ENST00000689514.1:n.824G>C
(ATP7A)
|
|
|
ENST00000689530.1:c.2782G>C
(ATP7A)
|
ENSP00000509707.1:p.Ala928Pro
|
|
ENST00000689767.1:c.2875G>C
(ATP7A)
|
ENSP00000509406.1:p.Ala959Pro
|
|
ENST00000692908.1:c.2548G>C
(ATP7A)
|
ENSP00000508627.1:p.Ala850Pro
|
|
ENST00000341514.11:c.2782G>C
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Ala928Pro
|
|
ENST00000644362.1:c.-19-88922G>C
(PGK1)
|
ENSP00000496140.1:n.-19-88922G>C
|
|
ENST00000645094.1:c.*2696G>C
(ATP7A)
|
ENSP00000493605.1:n.*2696G>C
|
|
ENST00000341514.10:c.2782G>C
(ATP7A)
|
ENSP00000345728.6:p.Ala928Pro
|
|
ENST00000343533.9:c.2548G>C
(ATP7A)
|
ENSP00000343026.5:p.Ala850Pro
|
|
ENST00000350425.5:c.*1955G>C
(ATP7A)
|
ENSP00000343678.5:n.*1955G>C
|
|
NM_000052.6:c.2782G>C
(ATP7A)
|
NP_000043.4:p.Ala928Pro
|
|
NM_001282224.1:c.2548G>C
(ATP7A)
|
NP_001269153.1:p.Ala850Pro
|
|
NR_104109.1:n.322-10455G>C
(ATP7A)
|
|
|
NM_000052.7:c.2782G>C
(ATP7A)
MANE Select
|
NP_000043.4:p.Ala928Pro
|
|
NR_104109.2:n.285-10455G>C
(ATP7A)
|
|
|
NM_001282224.2:c.2548G>C
(ATP7A)
|
NP_001269153.1:p.Ala850Pro
|
|