Linked Data
ClinVar Variation Id:
533671
dbSNP Id:
rs782006661
ExAC:
X:77268482 A / G
gnomAD v2:
X-77268482-A-G
gnomAD v3:
X-78012985-A-G
gnomAD v4:
X-78012985-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78012985A>G , CM000685.2:g.78012985A>G | GRCh38 |
| NC_000023.10:g.77268482A>G , CM000685.1:g.77268482A>G | GRCh37 |
| NC_000023.9:g.77155138A>G | NCBI36 |
| NG_013224.2:g.107289A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2309A>G (ATP7A) | ENSP00000343026.6:p.Tyr770Cys | |
| ENST00000682475.1:n.823+1311A>G (ATP7A) | ||
| ENST00000685264.1:c.2279A>G (ATP7A) | ENSP00000510136.1:p.Tyr760Cys | |
| ENST00000686033.1:c.2279A>G (ATP7A) | ENSP00000510693.1:p.Tyr760Cys | |
| ENST00000686133.1:c.2279A>G (ATP7A) | ENSP00000509233.1:p.Tyr760Cys | |
| ENST00000686255.1:n.1310A>G (ATP7A) | ||
| ENST00000686480.1:c.2172+1311A>G (ATP7A) | ENSP00000508978.1:n.2172+1311A>G | |
| ENST00000686543.1:c.2172+1311A>G (ATP7A) | ENSP00000509477.1:n.2172+1311A>G | |
| ENST00000686688.1:c.2279A>G (ATP7A) | ENSP00000509416.1:p.Tyr760Cys | |
| ENST00000687086.1:c.2279A>G (ATP7A) | ENSP00000509566.1:p.Tyr760Cys | |
| ENST00000688746.1:n.3635A>G (ATP7A) | ||
| ENST00000689514.1:n.321A>G (ATP7A) | ||
| ENST00000689530.1:c.2279A>G (ATP7A) | ENSP00000509707.1:p.Tyr760Cys | |
| ENST00000689649.1:c.2279A>G (ATP7A) | ENSP00000509277.1:p.Tyr760Cys | |
| ENST00000689767.1:c.2372A>G (ATP7A) | ENSP00000509406.1:p.Tyr791Cys | |
| ENST00000689872.1:c.*228A>G (ATP7A) | ENSP00000509373.1:n.*228A>G | |
| ENST00000692908.1:c.2172+1311A>G (ATP7A) | ENSP00000508627.1:n.2172+1311A>G | |
| ENST00000693398.1:c.2279A>G (ATP7A) | ENSP00000510089.1:p.Tyr760Cys | |
| ENST00000341514.11:c.2279A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Tyr760Cys | |
| ENST00000644362.1:c.-19-96882A>G (PGK1) | ENSP00000496140.1:n.-19-96882A>G | |
| ENST00000645094.1:c.*2193A>G (ATP7A) | ENSP00000493605.1:n.*2193A>G | |
| ENST00000341514.10:c.2279A>G (ATP7A) | ENSP00000345728.6:p.Tyr760Cys | |
| ENST00000343533.9:c.2172+1311A>G (ATP7A) | ENSP00000343026.5:n.2172+1311A>G | |
| ENST00000350425.5:c.*1452A>G (ATP7A) | ENSP00000343678.5:n.*1452A>G | |
| NM_000052.6:c.2279A>G (ATP7A) | NP_000043.4:p.Tyr760Cys | |
| NM_001282224.1:c.2172+1311A>G (ATP7A) | NP_001269153.1:n.2172+1311A>G | |
| NR_104109.1:n.322-18415A>G (ATP7A) | ||
| NM_000052.7:c.2279A>G (ATP7A) MANE Select | NP_000043.4:p.Tyr760Cys | |
| NR_104109.2:n.285-18415A>G (ATP7A) | ||
| NM_001282224.2:c.2172+1311A>G (ATP7A) | NP_001269153.1:n.2172+1311A>G |