ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78042584G>A , CM000685.2:g.78042584G>A | GRCh38 |
| NC_000023.10:g.77298082G>A , CM000685.1:g.77298082G>A | GRCh37 |
| NC_000023.9:g.77184738G>A | NCBI36 |
| NG_013224.2:g.136888G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.3832-1G>A (ATP7A) | ENSP00000343026.6:n.3832-1G>A | |
| ENST00000682475.1:n.2219-1G>A (ATP7A) | ||
| ENST00000685033.1:c.1066-1G>A (ATP7A) | ENSP00000509269.1:n.1066-1G>A | |
| ENST00000685264.1:c.3802-1G>A (ATP7A) | ENSP00000510136.1:n.3802-1G>A | |
| ENST00000686033.1:c.3607-1G>A (ATP7A) | ENSP00000510693.1:n.3607-1G>A | |
| ENST00000686133.1:c.3802-1G>A (ATP7A) | ENSP00000509233.1:n.3802-1G>A | |
| ENST00000686255.1:n.2833-1G>A (ATP7A) | ||
| ENST00000686543.1:c.3568-1G>A (ATP7A) | ENSP00000509477.1:n.3568-1G>A | |
| ENST00000687086.1:c.3802-1G>A (ATP7A) | ENSP00000509566.1:n.3802-1G>A | |
| ENST00000689514.1:n.1844-1G>A (ATP7A) | ||
| ENST00000689767.1:c.3895-1G>A (ATP7A) | ENSP00000509406.1:n.3895-1G>A | |
| ENST00000692908.1:c.3568-1G>A (ATP7A) | ENSP00000508627.1:n.3568-1G>A | |
| ENST00000341514.11:c.3802-1G>A (ATP7A) MANE Select | ENSP00000345728.6:n.3802-1G>A | |
| ENST00000644362.1:c.-19-67283G>A (PGK1) | ENSP00000496140.1:n.-19-67283G>A | |
| ENST00000645094.1:c.*3716-1G>A (ATP7A) | ENSP00000493605.1:n.*3716-1G>A | |
| ENST00000341514.10:c.3802-1G>A (ATP7A) | ENSP00000345728.6:n.3802-1G>A | |
| ENST00000343533.9:c.3568-1G>A (ATP7A) | ENSP00000343026.5:n.3568-1G>A | |
| ENST00000350425.5:c.*2975-1G>A (ATP7A) | ENSP00000343678.5:n.*2975-1G>A | |
| NM_000052.6:c.3802-1G>A (ATP7A) | NP_000043.4:n.3802-1G>A | |
| NM_001282224.1:c.3568-1G>A (ATP7A) | NP_001269153.1:n.3568-1G>A | |
| NR_104109.1:n.1012-1G>A (ATP7A) | ||
| NM_000052.7:c.3802-1G>A (ATP7A) MANE Select | NP_000043.4:n.3802-1G>A | |
| NR_104109.2:n.975-1G>A (ATP7A) | ||
| NM_001282224.2:c.3568-1G>A (ATP7A) | NP_001269153.1:n.3568-1G>A |