Linked Data
dbSNP Id:
rs782591033
ExAC:
X:77289220 G / A
gnomAD v2:
X-77289220-G-A
gnomAD v4:
X-78033722-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78033722G>A , CM000685.2:g.78033722G>A | GRCh38 |
| NC_000023.10:g.77289220G>A , CM000685.1:g.77289220G>A | GRCh37 |
| NC_000023.9:g.77175876G>A | NCBI36 |
| NG_013224.2:g.128026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.3442G>A (ATP7A) | ENSP00000343026.6:p.Glu1148Lys | |
| ENST00000682475.1:n.1829G>A (ATP7A) | ||
| ENST00000685033.1:c.676G>A (ATP7A) | ENSP00000509269.1:p.Glu226Lys | |
| ENST00000685264.1:c.3412G>A (ATP7A) | ENSP00000510136.1:p.Glu1138Lys | |
| ENST00000686033.1:c.3217G>A (ATP7A) | ENSP00000510693.1:p.Glu1073Lys | |
| ENST00000686133.1:c.3412G>A (ATP7A) | ENSP00000509233.1:p.Glu1138Lys | |
| ENST00000686255.1:n.2443G>A (ATP7A) | ||
| ENST00000686543.1:c.3178G>A (ATP7A) | ENSP00000509477.1:p.Glu1060Lys | |
| ENST00000687086.1:c.3412G>A (ATP7A) | ENSP00000509566.1:p.Glu1138Lys | |
| ENST00000689514.1:n.1454G>A (ATP7A) | ||
| ENST00000689767.1:c.3505G>A (ATP7A) | ENSP00000509406.1:p.Glu1169Lys | |
| ENST00000692908.1:c.3178G>A (ATP7A) | ENSP00000508627.1:p.Glu1060Lys | |
| ENST00000341514.11:c.3412G>A (ATP7A) MANE Select | ENSP00000345728.6:p.Glu1138Lys | |
| ENST00000644362.1:c.-19-76145G>A (PGK1) | ENSP00000496140.1:n.-19-76145G>A | |
| ENST00000645094.1:c.*3326G>A (ATP7A) | ENSP00000493605.1:n.*3326G>A | |
| ENST00000341514.10:c.3412G>A (ATP7A) | ENSP00000345728.6:p.Glu1138Lys | |
| ENST00000343533.9:c.3178G>A (ATP7A) | ENSP00000343026.5:p.Glu1060Lys | |
| ENST00000350425.5:c.*2585G>A (ATP7A) | ENSP00000343678.5:n.*2585G>A | |
| NM_000052.6:c.3412G>A (ATP7A) | NP_000043.4:p.Glu1138Lys | |
| NM_001282224.1:c.3178G>A (ATP7A) | NP_001269153.1:p.Glu1060Lys | |
| NR_104109.1:n.622G>A (ATP7A) | ||
| NM_000052.7:c.3412G>A (ATP7A) MANE Select | NP_000043.4:p.Glu1138Lys | |
| NR_104109.2:n.585G>A (ATP7A) | ||
| NM_001282224.2:c.3178G>A (ATP7A) | NP_001269153.1:p.Glu1060Lys |