Linked Data
ClinVar Variation Id:
2202272
dbSNP Id:
rs782127182
ExAC:
X:77227194 G / A
gnomAD v2:
X-77227194-G-A
gnomAD v3:
X-77971697-G-A
gnomAD v4:
X-77971697-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77971697G>A , CM000685.2:g.77971697G>A | GRCh38 |
| NC_000023.10:g.77227194G>A , CM000685.1:g.77227194G>A | GRCh37 |
| NC_000023.9:g.77113850G>A | NCBI36 |
| NG_013224.2:g.66001G>A | |
| NG_021360.1:g.2942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.86G>A (ATP7A) | ENSP00000343026.6:p.Cys29Tyr | |
| ENST00000682742.2:n.218G>A (ATP7A) | ||
| ENST00000684798.1:c.56G>A (ATP7A) | ENSP00000510429.1:p.Cys19Tyr | |
| ENST00000685208.1:n.218G>A (ATP7A) | ||
| ENST00000685264.1:c.56G>A (ATP7A) | ENSP00000510136.1:p.Cys19Tyr | |
| ENST00000685434.1:n.174G>A (ATP7A) | ||
| ENST00000685885.1:c.92G>A (ATP7A) | ENSP00000510005.1:p.Cys31Tyr | |
| ENST00000686033.1:c.56G>A (ATP7A) | ENSP00000510693.1:p.Cys19Tyr | |
| ENST00000686050.1:c.56G>A (ATP7A) | ENSP00000510562.1:p.Cys19Tyr | |
| ENST00000686133.1:c.56G>A (ATP7A) | ENSP00000509233.1:p.Cys19Tyr | |
| ENST00000686416.1:n.410G>A (ATP7A) | ||
| ENST00000686464.1:c.56G>A (ATP7A) | ENSP00000510468.1:p.Cys19Tyr | |
| ENST00000686480.1:c.56G>A (ATP7A) | ENSP00000508978.1:p.Cys19Tyr | |
| ENST00000686515.1:n.196G>A (ATP7A) | ||
| ENST00000686543.1:c.56G>A (ATP7A) | ENSP00000509477.1:p.Cys19Tyr | |
| ENST00000686560.1:c.56G>A (ATP7A) | ENSP00000509431.1:p.Cys19Tyr | |
| ENST00000686688.1:c.56G>A (ATP7A) | ENSP00000509416.1:p.Cys19Tyr | |
| ENST00000686896.1:c.56G>A (ATP7A) | ENSP00000509538.1:p.Cys19Tyr | |
| ENST00000686999.1:n.367G>A (ATP7A) | ||
| ENST00000687082.1:n.174G>A (ATP7A) | ||
| ENST00000687086.1:c.56G>A (ATP7A) | ENSP00000509566.1:p.Cys19Tyr | |
| ENST00000687325.1:n.359G>A (ATP7A) | ||
| ENST00000687416.1:c.56G>A (ATP7A) | ENSP00000510310.1:p.Cys19Tyr | |
| ENST00000687599.1:c.56G>A (ATP7A) | ENSP00000508745.1:p.Cys19Tyr | |
| ENST00000687628.1:n.157G>A (ATP7A) | ||
| ENST00000687984.1:c.56G>A (ATP7A) | ENSP00000510772.1:p.Cys19Tyr | |
| ENST00000688165.1:c.56G>A (ATP7A) | ENSP00000509828.1:p.Cys19Tyr | |
| ENST00000688249.1:c.56G>A (ATP7A) | ENSP00000510644.1:p.Cys19Tyr | |
| ENST00000688338.1:c.56G>A (ATP7A) | ENSP00000508672.1:p.Cys19Tyr | |
| ENST00000688746.1:n.208G>A (ATP7A) | ||
| ENST00000688889.1:c.56G>A (ATP7A) | ENSP00000508610.1:p.Cys19Tyr | |
| ENST00000689530.1:c.56G>A (ATP7A) | ENSP00000509707.1:p.Cys19Tyr | |
| ENST00000689541.1:n.365G>A (ATP7A) | ||
| ENST00000689649.1:c.56G>A (ATP7A) | ENSP00000509277.1:p.Cys19Tyr | |
| ENST00000689731.1:c.56G>A (ATP7A) | ENSP00000510791.1:p.Cys19Tyr | |
| ENST00000689767.1:c.56G>A (ATP7A) | ENSP00000509406.1:p.Cys19Tyr | |
| ENST00000689872.1:c.56G>A (ATP7A) | ENSP00000509373.1:p.Cys19Tyr | |
| ENST00000689891.1:c.56G>A (ATP7A) | ENSP00000508974.1:p.Cys19Tyr | |
| ENST00000691152.1:c.56G>A (ATP7A) | ENSP00000508843.1:p.Cys19Tyr | |
| ENST00000691456.1:n.347G>A (ATP7A) | ||
| ENST00000692110.1:c.56G>A (ATP7A) | ENSP00000509366.1:p.Cys19Tyr | |
| ENST00000692729.1:c.56G>A (ATP7A) | ENSP00000509207.1:p.Cys19Tyr | |
| ENST00000692908.1:c.56G>A (ATP7A) | ENSP00000508627.1:p.Cys19Tyr | |
| ENST00000693051.1:c.56G>A (ATP7A) | ENSP00000510332.1:p.Cys19Tyr | |
| ENST00000693167.1:c.56G>A (ATP7A) | ENSP00000509601.1:p.Cys19Tyr | |
| ENST00000693387.1:c.56G>A (ATP7A) | ENSP00000508732.1:p.Cys19Tyr | |
| ENST00000693398.1:c.56G>A (ATP7A) | ENSP00000510089.1:p.Cys19Tyr | |
| ENST00000341514.11:c.56G>A (ATP7A) MANE Select | ENSP00000345728.6:p.Cys19Tyr | |
| ENST00000642651.1:c.56G>A (ATP7A) | ENSP00000495628.1:p.Cys19Tyr | |
| ENST00000644362.1:c.-20+60862G>A (PGK1) | ENSP00000496140.1:n.-20+60862G>A | |
| ENST00000645094.1:c.56G>A (ATP7A) | ENSP00000493605.1:p.Cys19Tyr | |
| ENST00000645454.1:c.56G>A (ATP7A) | ENSP00000496603.1:p.Cys19Tyr | |
| ENST00000341514.10:c.56G>A (ATP7A) | ENSP00000345728.6:p.Cys19Tyr | |
| ENST00000343533.9:c.56G>A (ATP7A) | ENSP00000343026.5:p.Cys19Tyr | |
| ENST00000350425.5:c.56G>A (ATP7A) | ENSP00000343678.5:p.Cys19Tyr | |
| NM_000052.6:c.56G>A (ATP7A) | NP_000043.4:p.Cys19Tyr | |
| NM_001282224.1:c.56G>A (ATP7A) | NP_001269153.1:p.Cys19Tyr | |
| NR_104109.1:n.257G>A (ATP7A) | ||
| NM_000052.7:c.56G>A (ATP7A) MANE Select | NP_000043.4:p.Cys19Tyr | |
| NR_104109.2:n.220G>A (ATP7A) | ||
| NM_001282224.2:c.56G>A (ATP7A) | NP_001269153.1:p.Cys19Tyr |