Linked Data
ClinVar Variation Id:
2925902
ClinVar RCV Id:
RCV003783996
dbSNP Id:
rs1432524313
gnomAD v2:
X-77264583-G-A
gnomAD v3:
X-78009086-G-A
gnomAD v4:
X-78009086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78009086G>A , CM000685.2:g.78009086G>A | GRCh38 |
| NC_000023.10:g.77264583G>A , CM000685.1:g.77264583G>A | GRCh37 |
| NC_000023.9:g.77151239G>A | NCBI36 |
| NG_013224.2:g.103390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.1738-16G>A (ATP7A) | ENSP00000343026.6:n.1738-16G>A | |
| ENST00000682742.2:n.1870-16G>A (ATP7A) | ||
| ENST00000685264.1:c.1708-16G>A (ATP7A) | ENSP00000510136.1:n.1708-16G>A | |
| ENST00000685434.1:n.1742-16G>A (ATP7A) | ||
| ENST00000686033.1:c.1708-16G>A (ATP7A) | ENSP00000510693.1:n.1708-16G>A | |
| ENST00000686133.1:c.1708-16G>A (ATP7A) | ENSP00000509233.1:n.1708-16G>A | |
| ENST00000686416.1:n.2062-16G>A (ATP7A) | ||
| ENST00000686480.1:c.1708-16G>A (ATP7A) | ENSP00000508978.1:n.1708-16G>A | |
| ENST00000686515.1:n.1848-16G>A (ATP7A) | ||
| ENST00000686543.1:c.1708-16G>A (ATP7A) | ENSP00000509477.1:n.1708-16G>A | |
| ENST00000686688.1:c.1708-16G>A (ATP7A) | ENSP00000509416.1:n.1708-16G>A | |
| ENST00000686999.1:n.2019-16G>A (ATP7A) | ||
| ENST00000687086.1:c.1708-16G>A (ATP7A) | ENSP00000509566.1:n.1708-16G>A | |
| ENST00000687628.1:n.1809-16G>A (ATP7A) | ||
| ENST00000688746.1:n.1860-16G>A (ATP7A) | ||
| ENST00000689530.1:c.1708-16G>A (ATP7A) | ENSP00000509707.1:n.1708-16G>A | |
| ENST00000689541.1:n.2017-16G>A (ATP7A) | ||
| ENST00000689649.1:c.1708-16G>A (ATP7A) | ENSP00000509277.1:n.1708-16G>A | |
| ENST00000689767.1:c.1801-16G>A (ATP7A) | ENSP00000509406.1:n.1801-16G>A | |
| ENST00000689872.1:c.1708-16G>A (ATP7A) | ENSP00000509373.1:n.1708-16G>A | |
| ENST00000692110.1:c.1624-16G>A (ATP7A) | ENSP00000509366.1:n.1624-16G>A | |
| ENST00000692908.1:c.1708-16G>A (ATP7A) | ENSP00000508627.1:n.1708-16G>A | |
| ENST00000693387.1:c.*1637-16G>A (ATP7A) | ENSP00000508732.1:n.*1637-16G>A | |
| ENST00000693398.1:c.1708-16G>A (ATP7A) | ENSP00000510089.1:n.1708-16G>A | |
| ENST00000341514.11:c.1708-16G>A (ATP7A) MANE Select | ENSP00000345728.6:n.1708-16G>A | |
| ENST00000644362.1:c.-20+98251G>A (PGK1) | ENSP00000496140.1:n.-20+98251G>A | |
| ENST00000645094.1:c.*1622-16G>A (ATP7A) | ENSP00000493605.1:n.*1622-16G>A | |
| ENST00000341514.10:c.1708-16G>A (ATP7A) | ENSP00000345728.6:n.1708-16G>A | |
| ENST00000343533.9:c.1708-16G>A (ATP7A) | ENSP00000343026.5:n.1708-16G>A | |
| ENST00000350425.5:c.*881-16G>A (ATP7A) | ENSP00000343678.5:n.*881-16G>A | |
| NM_000052.6:c.1708-16G>A (ATP7A) | NP_000043.4:n.1708-16G>A | |
| NM_001282224.1:c.1708-16G>A (ATP7A) | NP_001269153.1:n.1708-16G>A | |
| NR_104109.1:n.322-22314G>A (ATP7A) | ||
| NM_000052.7:c.1708-16G>A (ATP7A) MANE Select | NP_000043.4:n.1708-16G>A | |
| NR_104109.2:n.285-22314G>A (ATP7A) | ||
| NM_001282224.2:c.1708-16G>A (ATP7A) | NP_001269153.1:n.1708-16G>A |