Linked Data
ClinVar Variation Id:
286130
dbSNP Id:
rs72554638
ExAC:
X:77264625 C / T
gnomAD v2:
X-77264625-C-T
gnomAD v3:
X-78009128-C-T
gnomAD v4:
X-78009128-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78009128C>T , CM000685.2:g.78009128C>T | GRCh38 |
| NC_000023.10:g.77264625C>T , CM000685.1:g.77264625C>T | GRCh37 |
| NC_000023.9:g.77151281C>T | NCBI36 |
| NG_013224.2:g.103432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.1764C>T (ATP7A) | ENSP00000343026.6:p.Cys588= | |
| ENST00000682742.2:n.1896C>T (ATP7A) | ||
| ENST00000685264.1:c.1734C>T (ATP7A) | ENSP00000510136.1:p.Cys578= | |
| ENST00000685434.1:n.1768C>T (ATP7A) | ||
| ENST00000686033.1:c.1734C>T (ATP7A) | ENSP00000510693.1:p.Cys578= | |
| ENST00000686133.1:c.1734C>T (ATP7A) | ENSP00000509233.1:p.Cys578= | |
| ENST00000686416.1:n.2088C>T (ATP7A) | ||
| ENST00000686480.1:c.1734C>T (ATP7A) | ENSP00000508978.1:p.Cys578= | |
| ENST00000686515.1:n.1874C>T (ATP7A) | ||
| ENST00000686543.1:c.1734C>T (ATP7A) | ENSP00000509477.1:p.Cys578= | |
| ENST00000686688.1:c.1734C>T (ATP7A) | ENSP00000509416.1:p.Cys578= | |
| ENST00000686999.1:n.2045C>T (ATP7A) | ||
| ENST00000687086.1:c.1734C>T (ATP7A) | ENSP00000509566.1:p.Cys578= | |
| ENST00000687628.1:n.1835C>T (ATP7A) | ||
| ENST00000688746.1:n.1886C>T (ATP7A) | ||
| ENST00000689530.1:c.1734C>T (ATP7A) | ENSP00000509707.1:p.Cys578= | |
| ENST00000689541.1:n.2043C>T (ATP7A) | ||
| ENST00000689649.1:c.1734C>T (ATP7A) | ENSP00000509277.1:p.Cys578= | |
| ENST00000689767.1:c.1827C>T (ATP7A) | ENSP00000509406.1:p.Cys609= | |
| ENST00000689872.1:c.1734C>T (ATP7A) | ENSP00000509373.1:p.Cys578= | |
| ENST00000692110.1:c.1650C>T (ATP7A) | ENSP00000509366.1:p.Cys550= | |
| ENST00000692908.1:c.1734C>T (ATP7A) | ENSP00000508627.1:p.Cys578= | |
| ENST00000693387.1:c.*1663C>T (ATP7A) | ENSP00000508732.1:n.*1663C>T | |
| ENST00000693398.1:c.1734C>T (ATP7A) | ENSP00000510089.1:p.Cys578= | |
| ENST00000341514.11:c.1734C>T (ATP7A) MANE Select | ENSP00000345728.6:p.Cys578= | |
| ENST00000644362.1:c.-20+98293C>T (PGK1) | ENSP00000496140.1:n.-20+98293C>T | |
| ENST00000645094.1:c.*1648C>T (ATP7A) | ENSP00000493605.1:n.*1648C>T | |
| ENST00000341514.10:c.1734C>T (ATP7A) | ENSP00000345728.6:p.Cys578= | |
| ENST00000343533.9:c.1734C>T (ATP7A) | ENSP00000343026.5:p.Cys578= | |
| ENST00000350425.5:c.*907C>T (ATP7A) | ENSP00000343678.5:n.*907C>T | |
| NM_000052.6:c.1734C>T (ATP7A) | NP_000043.4:p.Cys578= | |
| NM_001282224.1:c.1734C>T (ATP7A) | NP_001269153.1:p.Cys578= | |
| NR_104109.1:n.322-22272C>T (ATP7A) | ||
| NM_000052.7:c.1734C>T (ATP7A) MANE Select | NP_000043.4:p.Cys578= | |
| NR_104109.2:n.285-22272C>T (ATP7A) | ||
| NM_001282224.2:c.1734C>T (ATP7A) | NP_001269153.1:p.Cys578= |