|
NM_000052.7:c.2242G>A
(ATP7A)
MANE Select
|
NP_000043.4:p.Val748Ile
|
|
ENST00000341514.11:c.2242G>A
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Val748Ile
|
|
NM_000052.6:c.2242G>A
(ATP7A)
|
NP_000043.4:p.Val748Ile
|
|
NM_001282224.1:c.2172+1274G>A
(ATP7A)
|
NP_001269153.1:n.2172+1274G>A
|
|
NM_001282224.2:c.2172+1274G>A
(ATP7A)
|
NP_001269153.1:n.2172+1274G>A
|
|
NR_104109.1:n.322-18452G>A
(ATP7A)
|
|
|
NR_104109.2:n.285-18452G>A
(ATP7A)
|
|
|
ENST00000341514.10:c.2242G>A
(ATP7A)
|
ENSP00000345728.6:p.Val748Ile
|
|
ENST00000343533.10:c.2272G>A
(ATP7A)
|
ENSP00000343026.6:p.Val758Ile
|
|
ENST00000343533.9:c.2172+1274G>A
(ATP7A)
|
ENSP00000343026.5:n.2172+1274G>A
|
|
ENST00000350425.5:c.*1415G>A
(ATP7A)
|
ENSP00000343678.5:n.*1415G>A
|
|
ENST00000644362.1:c.-19-96919G>A
(PGK1)
|
ENSP00000496140.1:n.-19-96919G>A
|
|
ENST00000645094.1:c.*2156G>A
(ATP7A)
|
ENSP00000493605.1:n.*2156G>A
|
|
ENST00000682475.1:n.823+1274G>A
(ATP7A)
|
|
|
ENST00000685264.1:c.2242G>A
(ATP7A)
|
ENSP00000510136.1:p.Val748Ile
|
|
ENST00000686033.1:c.2242G>A
(ATP7A)
|
ENSP00000510693.1:p.Val748Ile
|
|
ENST00000686133.1:c.2242G>A
(ATP7A)
|
ENSP00000509233.1:p.Val748Ile
|
|
ENST00000686255.1:n.1273G>A
(ATP7A)
|
|
|
ENST00000686480.1:c.2172+1274G>A
(ATP7A)
|
ENSP00000508978.1:n.2172+1274G>A
|
|
ENST00000686543.1:c.2172+1274G>A
(ATP7A)
|
ENSP00000509477.1:n.2172+1274G>A
|
|
ENST00000686688.1:c.2242G>A
(ATP7A)
|
ENSP00000509416.1:p.Val748Ile
|
|
ENST00000687086.1:c.2242G>A
(ATP7A)
|
ENSP00000509566.1:p.Val748Ile
|
|
ENST00000688746.1:n.3598G>A
(ATP7A)
|
|
|
ENST00000689514.1:n.284G>A
(ATP7A)
|
|
|
ENST00000689530.1:c.2242G>A
(ATP7A)
|
ENSP00000509707.1:p.Val748Ile
|
|
ENST00000689649.1:c.2242G>A
(ATP7A)
|
ENSP00000509277.1:p.Val748Ile
|
|
ENST00000689767.1:c.2335G>A
(ATP7A)
|
ENSP00000509406.1:p.Val779Ile
|
|
ENST00000689872.1:c.*191G>A
(ATP7A)
|
ENSP00000509373.1:n.*191G>A
|
|
ENST00000692908.1:c.2172+1274G>A
(ATP7A)
|
ENSP00000508627.1:n.2172+1274G>A
|
|
ENST00000693398.1:c.2242G>A
(ATP7A)
|
ENSP00000510089.1:p.Val748Ile
|
