Linked Data
ClinVar Variation Id:
517141
dbSNP Id:
rs781959472
ExAC:
X:77264680 G / A
gnomAD v2:
X-77264680-G-A
gnomAD v3:
X-78009183-G-A
gnomAD v4:
X-78009183-G-A
COSMIC:
COSM5125016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78009183G>A , CM000685.2:g.78009183G>A | GRCh38 |
| NC_000023.10:g.77264680G>A , CM000685.1:g.77264680G>A | GRCh37 |
| NC_000023.9:g.77151336G>A | NCBI36 |
| NG_013224.2:g.103487G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.1819G>A (ATP7A) | ENSP00000343026.6:p.Val607Met | |
| ENST00000682742.2:n.1951G>A (ATP7A) | ||
| ENST00000685264.1:c.1789G>A (ATP7A) | ENSP00000510136.1:p.Val597Met | |
| ENST00000685434.1:n.1823G>A (ATP7A) | ||
| ENST00000686033.1:c.1789G>A (ATP7A) | ENSP00000510693.1:p.Val597Met | |
| ENST00000686133.1:c.1789G>A (ATP7A) | ENSP00000509233.1:p.Val597Met | |
| ENST00000686416.1:n.2143G>A (ATP7A) | ||
| ENST00000686480.1:c.1789G>A (ATP7A) | ENSP00000508978.1:p.Val597Met | |
| ENST00000686515.1:n.1929G>A (ATP7A) | ||
| ENST00000686543.1:c.1789G>A (ATP7A) | ENSP00000509477.1:p.Val597Met | |
| ENST00000686688.1:c.1789G>A (ATP7A) | ENSP00000509416.1:p.Val597Met | |
| ENST00000686999.1:n.2100G>A (ATP7A) | ||
| ENST00000687086.1:c.1789G>A (ATP7A) | ENSP00000509566.1:p.Val597Met | |
| ENST00000687628.1:n.1890G>A (ATP7A) | ||
| ENST00000688746.1:n.1941G>A (ATP7A) | ||
| ENST00000689530.1:c.1789G>A (ATP7A) | ENSP00000509707.1:p.Val597Met | |
| ENST00000689541.1:n.2098G>A (ATP7A) | ||
| ENST00000689649.1:c.1789G>A (ATP7A) | ENSP00000509277.1:p.Val597Met | |
| ENST00000689767.1:c.1882G>A (ATP7A) | ENSP00000509406.1:p.Val628Met | |
| ENST00000689872.1:c.1789G>A (ATP7A) | ENSP00000509373.1:p.Val597Met | |
| ENST00000692110.1:c.1705G>A (ATP7A) | ENSP00000509366.1:p.Val569Met | |
| ENST00000692908.1:c.1789G>A (ATP7A) | ENSP00000508627.1:p.Val597Met | |
| ENST00000693387.1:c.*1718G>A (ATP7A) | ENSP00000508732.1:n.*1718G>A | |
| ENST00000693398.1:c.1789G>A (ATP7A) | ENSP00000510089.1:p.Val597Met | |
| ENST00000341514.11:c.1789G>A (ATP7A) MANE Select | ENSP00000345728.6:p.Val597Met | |
| ENST00000644362.1:c.-20+98348G>A (PGK1) | ENSP00000496140.1:n.-20+98348G>A | |
| ENST00000645094.1:c.*1703G>A (ATP7A) | ENSP00000493605.1:n.*1703G>A | |
| ENST00000341514.10:c.1789G>A (ATP7A) | ENSP00000345728.6:p.Val597Met | |
| ENST00000343533.9:c.1789G>A (ATP7A) | ENSP00000343026.5:p.Val597Met | |
| ENST00000350425.5:c.*962G>A (ATP7A) | ENSP00000343678.5:n.*962G>A | |
| NM_000052.6:c.1789G>A (ATP7A) | NP_000043.4:p.Val597Met | |
| NM_001282224.1:c.1789G>A (ATP7A) | NP_001269153.1:p.Val597Met | |
| NR_104109.1:n.322-22217G>A (ATP7A) | ||
| NM_000052.7:c.1789G>A (ATP7A) MANE Select | NP_000043.4:p.Val597Met | |
| NR_104109.2:n.285-22217G>A (ATP7A) | ||
| NM_001282224.2:c.1789G>A (ATP7A) | NP_001269153.1:p.Val597Met |