Linked Data
ClinVar Variation Id:
452221
dbSNP Id:
rs1557231562
gnomAD v2:
X-77243759-G-A
gnomAD v3:
X-77988263-G-A
gnomAD v4:
X-77988263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77988263G>A , CM000685.2:g.77988263G>A | GRCh38 |
| NC_000023.10:g.77243759G>A , CM000685.1:g.77243759G>A | GRCh37 |
| NC_000023.9:g.77130415G>A | NCBI36 |
| NG_013224.2:g.82567G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.172G>A (ATP7A) | ENSP00000343026.6:p.Ala58Thr | |
| ENST00000682742.2:n.304G>A (ATP7A) | ||
| ENST00000685208.1:n.304G>A (ATP7A) | ||
| ENST00000685264.1:c.142G>A (ATP7A) | ENSP00000510136.1:p.Ala48Thr | |
| ENST00000685434.1:n.260G>A (ATP7A) | ||
| ENST00000685885.1:c.178G>A (ATP7A) | ENSP00000510005.1:p.Ala60Thr | |
| ENST00000686033.1:c.142G>A (ATP7A) | ENSP00000510693.1:p.Ala48Thr | |
| ENST00000686133.1:c.142G>A (ATP7A) | ENSP00000509233.1:p.Ala48Thr | |
| ENST00000686416.1:n.496G>A (ATP7A) | ||
| ENST00000686480.1:c.142G>A (ATP7A) | ENSP00000508978.1:p.Ala48Thr | |
| ENST00000686515.1:n.282G>A (ATP7A) | ||
| ENST00000686543.1:c.142G>A (ATP7A) | ENSP00000509477.1:p.Ala48Thr | |
| ENST00000686688.1:c.142G>A (ATP7A) | ENSP00000509416.1:p.Ala48Thr | |
| ENST00000686999.1:n.453G>A (ATP7A) | ||
| ENST00000687082.1:n.260G>A (ATP7A) | ||
| ENST00000687086.1:c.142G>A (ATP7A) | ENSP00000509566.1:p.Ala48Thr | |
| ENST00000687325.1:n.445G>A (ATP7A) | ||
| ENST00000687416.1:c.142G>A (ATP7A) | ENSP00000510310.1:p.Ala48Thr | |
| ENST00000687599.1:c.142G>A (ATP7A) | ENSP00000508745.1:p.Ala48Thr | |
| ENST00000687628.1:n.243G>A (ATP7A) | ||
| ENST00000687984.1:c.142G>A (ATP7A) | ENSP00000510772.1:p.Ala48Thr | |
| ENST00000688249.1:c.142G>A (ATP7A) | ENSP00000510644.1:p.Ala48Thr | |
| ENST00000688338.1:c.142G>A (ATP7A) | ENSP00000508672.1:p.Ala48Thr | |
| ENST00000688746.1:n.294G>A (ATP7A) | ||
| ENST00000688889.1:c.*56G>A (ATP7A) | ENSP00000508610.1:n.*56G>A | |
| ENST00000689530.1:c.142G>A (ATP7A) | ENSP00000509707.1:p.Ala48Thr | |
| ENST00000689541.1:n.451G>A (ATP7A) | ||
| ENST00000689649.1:c.142G>A (ATP7A) | ENSP00000509277.1:p.Ala48Thr | |
| ENST00000689767.1:c.142G>A (ATP7A) | ENSP00000509406.1:p.Ala48Thr | |
| ENST00000689872.1:c.142G>A (ATP7A) | ENSP00000509373.1:p.Ala48Thr | |
| ENST00000689891.1:c.142G>A (ATP7A) | ENSP00000508974.1:p.Ala48Thr | |
| ENST00000691152.1:c.142G>A (ATP7A) | ENSP00000508843.1:p.Ala48Thr | |
| ENST00000691456.1:n.433G>A (ATP7A) | ||
| ENST00000692110.1:c.142G>A (ATP7A) | ENSP00000509366.1:p.Ala48Thr | |
| ENST00000692908.1:c.142G>A (ATP7A) | ENSP00000508627.1:p.Ala48Thr | |
| ENST00000693051.1:c.142G>A (ATP7A) | ENSP00000510332.1:p.Ala48Thr | |
| ENST00000693387.1:c.*71G>A (ATP7A) | ENSP00000508732.1:n.*71G>A | |
| ENST00000693398.1:c.142G>A (ATP7A) | ENSP00000510089.1:p.Ala48Thr | |
| ENST00000341514.11:c.142G>A (ATP7A) MANE Select | ENSP00000345728.6:p.Ala48Thr | |
| ENST00000644362.1:c.-20+77428G>A (PGK1) | ENSP00000496140.1:n.-20+77428G>A | |
| ENST00000645094.1:c.*56G>A (ATP7A) | ENSP00000493605.1:n.*56G>A | |
| ENST00000341514.10:c.142G>A (ATP7A) | ENSP00000345728.6:p.Ala48Thr | |
| ENST00000343533.9:c.142G>A (ATP7A) | ENSP00000343026.5:p.Ala48Thr | |
| ENST00000350425.5:c.142G>A (ATP7A) | ENSP00000343678.5:p.Ala48Thr | |
| NM_000052.6:c.142G>A (ATP7A) | NP_000043.4:p.Ala48Thr | |
| NM_001282224.1:c.142G>A (ATP7A) | NP_001269153.1:p.Ala48Thr | |
| NR_104109.1:n.321+16502G>A (ATP7A) | ||
| NM_000052.7:c.142G>A (ATP7A) MANE Select | NP_000043.4:p.Ala48Thr | |
| NR_104109.2:n.284+16502G>A (ATP7A) | ||
| NM_001282224.2:c.142G>A (ATP7A) | NP_001269153.1:p.Ala48Thr |