Linked Data
ClinVar Variation Id:
2924148
ClinVar RCV Id:
RCV003785898
dbSNP Id:
rs1557231597
gnomAD v2:
X-77243928-A-C
gnomAD v4:
X-77988432-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77988432A>C , CM000685.2:g.77988432A>C | GRCh38 |
| NC_000023.10:g.77243928A>C , CM000685.1:g.77243928A>C | GRCh37 |
| NC_000023.9:g.77130584A>C | NCBI36 |
| NG_013224.2:g.82736A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.341A>C (ATP7A) | ENSP00000343026.6:p.Gln114Pro | |
| ENST00000682742.2:n.473A>C (ATP7A) | ||
| ENST00000685208.1:n.473A>C (ATP7A) | ||
| ENST00000685264.1:c.311A>C (ATP7A) | ENSP00000510136.1:p.Gln104Pro | |
| ENST00000685434.1:n.429A>C (ATP7A) | ||
| ENST00000685885.1:c.347A>C (ATP7A) | ENSP00000510005.1:p.Gln116Pro | |
| ENST00000686033.1:c.311A>C (ATP7A) | ENSP00000510693.1:p.Gln104Pro | |
| ENST00000686133.1:c.311A>C (ATP7A) | ENSP00000509233.1:p.Gln104Pro | |
| ENST00000686416.1:n.665A>C (ATP7A) | ||
| ENST00000686480.1:c.311A>C (ATP7A) | ENSP00000508978.1:p.Gln104Pro | |
| ENST00000686515.1:n.451A>C (ATP7A) | ||
| ENST00000686543.1:c.311A>C (ATP7A) | ENSP00000509477.1:p.Gln104Pro | |
| ENST00000686688.1:c.311A>C (ATP7A) | ENSP00000509416.1:p.Gln104Pro | |
| ENST00000686999.1:n.622A>C (ATP7A) | ||
| ENST00000687082.1:n.429A>C (ATP7A) | ||
| ENST00000687086.1:c.311A>C (ATP7A) | ENSP00000509566.1:p.Gln104Pro | |
| ENST00000687325.1:n.614A>C (ATP7A) | ||
| ENST00000687416.1:c.311A>C (ATP7A) | ENSP00000510310.1:p.Gln104Pro | |
| ENST00000687599.1:c.311A>C (ATP7A) | ENSP00000508745.1:p.Gln104Pro | |
| ENST00000687628.1:n.412A>C (ATP7A) | ||
| ENST00000687984.1:c.311A>C (ATP7A) | ENSP00000510772.1:p.Gln104Pro | |
| ENST00000688249.1:c.311A>C (ATP7A) | ENSP00000510644.1:p.Gln104Pro | |
| ENST00000688338.1:c.311A>C (ATP7A) | ENSP00000508672.1:p.Gln104Pro | |
| ENST00000688746.1:n.463A>C (ATP7A) | ||
| ENST00000688889.1:c.*225A>C (ATP7A) | ENSP00000508610.1:n.*225A>C | |
| ENST00000689530.1:c.311A>C (ATP7A) | ENSP00000509707.1:p.Gln104Pro | |
| ENST00000689541.1:n.620A>C (ATP7A) | ||
| ENST00000689649.1:c.311A>C (ATP7A) | ENSP00000509277.1:p.Gln104Pro | |
| ENST00000689767.1:c.311A>C (ATP7A) | ENSP00000509406.1:p.Gln104Pro | |
| ENST00000689872.1:c.311A>C (ATP7A) | ENSP00000509373.1:p.Gln104Pro | |
| ENST00000689891.1:c.311A>C (ATP7A) | ENSP00000508974.1:p.Gln104Pro | |
| ENST00000691152.1:c.311A>C (ATP7A) | ENSP00000508843.1:p.Gln104Pro | |
| ENST00000691456.1:n.602A>C (ATP7A) | ||
| ENST00000692110.1:c.311A>C (ATP7A) | ENSP00000509366.1:p.Gln104Pro | |
| ENST00000692908.1:c.311A>C (ATP7A) | ENSP00000508627.1:p.Gln104Pro | |
| ENST00000693051.1:c.311A>C (ATP7A) | ENSP00000510332.1:p.Gln104Pro | |
| ENST00000693387.1:c.*240A>C (ATP7A) | ENSP00000508732.1:n.*240A>C | |
| ENST00000693398.1:c.311A>C (ATP7A) | ENSP00000510089.1:p.Gln104Pro | |
| ENST00000341514.11:c.311A>C (ATP7A) MANE Select | ENSP00000345728.6:p.Gln104Pro | |
| ENST00000644362.1:c.-20+77597A>C (PGK1) | ENSP00000496140.1:n.-20+77597A>C | |
| ENST00000645094.1:c.*225A>C (ATP7A) | ENSP00000493605.1:n.*225A>C | |
| ENST00000341514.10:c.311A>C (ATP7A) | ENSP00000345728.6:p.Gln104Pro | |
| ENST00000343533.9:c.311A>C (ATP7A) | ENSP00000343026.5:p.Gln104Pro | |
| ENST00000350425.5:c.311A>C (ATP7A) | ENSP00000343678.5:p.Gln104Pro | |
| NM_000052.6:c.311A>C (ATP7A) | NP_000043.4:p.Gln104Pro | |
| NM_001282224.1:c.311A>C (ATP7A) | NP_001269153.1:p.Gln104Pro | |
| NR_104109.1:n.321+16671A>C (ATP7A) | ||
| NM_000052.7:c.311A>C (ATP7A) MANE Select | NP_000043.4:p.Gln104Pro | |
| NR_104109.2:n.284+16671A>C (ATP7A) | ||
| NM_001282224.2:c.311A>C (ATP7A) | NP_001269153.1:p.Gln104Pro |