|
ENST00000343533.10:c.4186C>T
(ATP7A)
|
ENSP00000343026.6:p.Pro1396Ser
|
|
|
ENST00000682475.1:n.2573C>T
(ATP7A)
|
|
|
|
ENST00000685033.1:c.1420C>T
(ATP7A)
|
ENSP00000509269.1:p.Pro474Ser
|
|
|
ENST00000685264.1:c.4156C>T
(ATP7A)
|
ENSP00000510136.1:p.Pro1386Ser
|
|
|
ENST00000686033.1:c.3961C>T
(ATP7A)
|
ENSP00000510693.1:p.Pro1321Ser
|
|
|
ENST00000686133.1:c.4156C>T
(ATP7A)
|
ENSP00000509233.1:p.Pro1386Ser
|
|
|
ENST00000686255.1:n.3187C>T
(ATP7A)
|
|
|
|
ENST00000686543.1:c.3922C>T
(ATP7A)
|
ENSP00000509477.1:p.Pro1308Ser
|
|
|
ENST00000687086.1:c.4156C>T
(ATP7A)
|
ENSP00000509566.1:p.Pro1386Ser
|
|
|
ENST00000689083.1:n.1451C>T
(ATP7A)
|
|
|
|
ENST00000689767.1:c.4249C>T
(ATP7A)
|
ENSP00000509406.1:p.Pro1417Ser
|
|
|
ENST00000692908.1:c.3922C>T
(ATP7A)
|
ENSP00000508627.1:p.Pro1308Ser
|
|
|
ENST00000341514.11:c.4156C>T
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Pro1386Ser
|
|
|
ENST00000644362.1:c.-19-64365C>T
(PGK1)
|
ENSP00000496140.1:n.-19-64365C>T
|
|
|
ENST00000341514.10:c.4156C>T
(ATP7A)
|
ENSP00000345728.6:p.Pro1386Ser
|
|
|
ENST00000343533.9:c.3922C>T
(ATP7A)
|
ENSP00000343026.5:p.Pro1308Ser
|
|
|
ENST00000350425.5:c.*3329C>T
(ATP7A)
|
ENSP00000343678.5:n.*3329C>T
|
|
|
NM_000052.6:c.4156C>T
(ATP7A)
|
NP_000043.4:p.Pro1386Ser
|
|
|
NM_001282224.1:c.3922C>T
(ATP7A)
|
NP_001269153.1:p.Pro1308Ser
|
|
|
NR_104109.1:n.1366C>T
(ATP7A)
|
|
|
|
NM_000052.7:c.4156C>T
(ATP7A)
MANE Select
|
NP_000043.4:p.Pro1386Ser
|
|
|
NR_104109.2:n.1329C>T
(ATP7A)
|
|
|
|
NM_001282224.2:c.3922C>T
(ATP7A)
|
NP_001269153.1:p.Pro1308Ser
|
|
