Linked Data
ClinVar Variation Id:
423365
dbSNP Id:
rs782682493
ExAC:
X:77301876 G / A
gnomAD v2:
X-77301876-G-A
gnomAD v3:
X-78046379-G-A
gnomAD v4:
X-78046379-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78046379G>A , CM000685.2:g.78046379G>A | GRCh38 |
| NC_000023.10:g.77301876G>A , CM000685.1:g.77301876G>A | GRCh37 |
| NC_000023.9:g.77188532G>A | NCBI36 |
| NG_013224.2:g.140683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.4342G>A (ATP7A) | ENSP00000343026.6:p.Val1448Ile | |
| ENST00000682475.1:n.2729G>A (ATP7A) | ||
| ENST00000685033.1:c.1576G>A (ATP7A) | ENSP00000509269.1:p.Val526Ile | |
| ENST00000685264.1:c.4312G>A (ATP7A) | ENSP00000510136.1:p.Val1438Ile | |
| ENST00000686033.1:c.4117G>A (ATP7A) | ENSP00000510693.1:p.Val1373Ile | |
| ENST00000686133.1:c.4312G>A (ATP7A) | ENSP00000509233.1:p.Val1438Ile | |
| ENST00000686255.1:n.3343G>A (ATP7A) | ||
| ENST00000686543.1:c.4078G>A (ATP7A) | ENSP00000509477.1:p.Val1360Ile | |
| ENST00000687086.1:c.4312G>A (ATP7A) | ENSP00000509566.1:p.Val1438Ile | |
| ENST00000689083.1:n.1607G>A (ATP7A) | ||
| ENST00000689767.1:c.4405G>A (ATP7A) | ENSP00000509406.1:p.Val1469Ile | |
| ENST00000692908.1:c.4078G>A (ATP7A) | ENSP00000508627.1:p.Val1360Ile | |
| ENST00000341514.11:c.4312G>A (ATP7A) MANE Select | ENSP00000345728.6:p.Val1438Ile | |
| ENST00000644362.1:c.-19-63488G>A (PGK1) | ENSP00000496140.1:n.-19-63488G>A | |
| ENST00000341514.10:c.4312G>A (ATP7A) | ENSP00000345728.6:p.Val1438Ile | |
| ENST00000343533.9:c.4078G>A (ATP7A) | ENSP00000343026.5:p.Val1360Ile | |
| ENST00000350425.5:c.*3485G>A (ATP7A) | ENSP00000343678.5:n.*3485G>A | |
| NM_000052.6:c.4312G>A (ATP7A) | NP_000043.4:p.Val1438Ile | |
| NM_001282224.1:c.4078G>A (ATP7A) | NP_001269153.1:p.Val1360Ile | |
| NR_104109.1:n.1522G>A (ATP7A) | ||
| NM_000052.7:c.4312G>A (ATP7A) MANE Select | NP_000043.4:p.Val1438Ile | |
| NR_104109.2:n.1485G>A (ATP7A) | ||
| NM_001282224.2:c.4078G>A (ATP7A) | NP_001269153.1:p.Val1360Ile |