Linked Data
ClinVar Variation Id:
2928092
ClinVar RCV Id:
RCV003786914
dbSNP Id:
rs781914030
gnomAD v2:
X-77289166-A-C
gnomAD v3:
X-78033668-A-C
gnomAD v4:
X-78033668-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78033668A>C , CM000685.2:g.78033668A>C | GRCh38 |
| NC_000023.10:g.77289166A>C , CM000685.1:g.77289166A>C | GRCh37 |
| NC_000023.9:g.77175822A>C | NCBI36 |
| NG_013224.2:g.127972A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.3388A>C (ATP7A) | ENSP00000343026.6:p.Ser1130Arg | |
| ENST00000682475.1:n.1775A>C (ATP7A) | ||
| ENST00000685033.1:c.622A>C (ATP7A) | ENSP00000509269.1:p.Ser208Arg | |
| ENST00000685264.1:c.3358A>C (ATP7A) | ENSP00000510136.1:p.Ser1120Arg | |
| ENST00000686033.1:c.3163A>C (ATP7A) | ENSP00000510693.1:p.Ser1055Arg | |
| ENST00000686133.1:c.3358A>C (ATP7A) | ENSP00000509233.1:p.Ser1120Arg | |
| ENST00000686255.1:n.2389A>C (ATP7A) | ||
| ENST00000686543.1:c.3124A>C (ATP7A) | ENSP00000509477.1:p.Ser1042Arg | |
| ENST00000687086.1:c.3358A>C (ATP7A) | ENSP00000509566.1:p.Ser1120Arg | |
| ENST00000689514.1:n.1400A>C (ATP7A) | ||
| ENST00000689767.1:c.3451A>C (ATP7A) | ENSP00000509406.1:p.Ser1151Arg | |
| ENST00000692908.1:c.3124A>C (ATP7A) | ENSP00000508627.1:p.Ser1042Arg | |
| ENST00000341514.11:c.3358A>C (ATP7A) MANE Select | ENSP00000345728.6:p.Ser1120Arg | |
| ENST00000644362.1:c.-19-76199A>C (PGK1) | ENSP00000496140.1:n.-19-76199A>C | |
| ENST00000645094.1:c.*3272A>C (ATP7A) | ENSP00000493605.1:n.*3272A>C | |
| ENST00000341514.10:c.3358A>C (ATP7A) | ENSP00000345728.6:p.Ser1120Arg | |
| ENST00000343533.9:c.3124A>C (ATP7A) | ENSP00000343026.5:p.Ser1042Arg | |
| ENST00000350425.5:c.*2531A>C (ATP7A) | ENSP00000343678.5:n.*2531A>C | |
| NM_000052.6:c.3358A>C (ATP7A) | NP_000043.4:p.Ser1120Arg | |
| NM_001282224.1:c.3124A>C (ATP7A) | NP_001269153.1:p.Ser1042Arg | |
| NR_104109.1:n.568A>C (ATP7A) | ||
| NM_000052.7:c.3358A>C (ATP7A) MANE Select | NP_000043.4:p.Ser1120Arg | |
| NR_104109.2:n.531A>C (ATP7A) | ||
| NM_001282224.2:c.3124A>C (ATP7A) | NP_001269153.1:p.Ser1042Arg |