Linked Data
dbSNP Id:
rs138178131
ExAC:
X:77225061 C / G
gnomAD v2:
X-77225061-C-G
gnomAD v3:
X-77969564-C-G
gnomAD v4:
X-77969564-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77969564C>G , CM000685.2:g.77969564C>G | GRCh38 |
| NC_000023.10:g.77225061C>G , CM000685.1:g.77225061C>G | GRCh37 |
| NC_000023.9:g.77111717C>G | NCBI36 |
| NG_013224.2:g.63868C>G | |
| NG_021360.1:g.5075G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343533.10:c.10-2057C>G (ATP7A) | ENSP00000343026.6:n.10-2057C>G | |
| ENST00000682742.2:n.142-2057C>G (ATP7A) | ||
| ENST00000684798.1:c.-21-2057C>G (ATP7A) | ENSP00000510429.1:n.-21-2057C>G | |
| ENST00000685208.1:n.142-2057C>G (ATP7A) | ||
| ENST00000685264.1:c.-21-2057C>G (ATP7A) | ENSP00000510136.1:n.-21-2057C>G | |
| ENST00000685434.1:n.98-2057C>G (ATP7A) | ||
| ENST00000685885.1:c.16-2057C>G (ATP7A) | ENSP00000510005.1:n.16-2057C>G | |
| ENST00000686033.1:c.-21-2057C>G (ATP7A) | ENSP00000510693.1:n.-21-2057C>G | |
| ENST00000686050.1:c.-21-2057C>G (ATP7A) | ENSP00000510562.1:n.-21-2057C>G | |
| ENST00000686133.1:c.-21-2057C>G (ATP7A) | ENSP00000509233.1:n.-21-2057C>G | |
| ENST00000686416.1:n.334-2057C>G (ATP7A) | ||
| ENST00000686464.1:c.-21-2057C>G (ATP7A) | ENSP00000510468.1:n.-21-2057C>G | |
| ENST00000686480.1:c.-21-2057C>G (ATP7A) | ENSP00000508978.1:n.-21-2057C>G | |
| ENST00000686515.1:n.120-2057C>G (ATP7A) | ||
| ENST00000686543.1:c.-21-2057C>G (ATP7A) | ENSP00000509477.1:n.-21-2057C>G | |
| ENST00000686560.1:c.-21-2057C>G (ATP7A) | ENSP00000509431.1:n.-21-2057C>G | |
| ENST00000686688.1:c.-21-2057C>G (ATP7A) | ENSP00000509416.1:n.-21-2057C>G | |
| ENST00000686896.1:c.-21-2057C>G (ATP7A) | ENSP00000509538.1:n.-21-2057C>G | |
| ENST00000686999.1:n.291-2057C>G (ATP7A) | ||
| ENST00000687082.1:n.98-2057C>G (ATP7A) | ||
| ENST00000687086.1:c.-21-2057C>G (ATP7A) | ENSP00000509566.1:n.-21-2057C>G | |
| ENST00000687325.1:n.283-2057C>G (ATP7A) | ||
| ENST00000687416.1:c.-21-2057C>G (ATP7A) | ENSP00000510310.1:n.-21-2057C>G | |
| ENST00000687599.1:c.-21-2057C>G (ATP7A) | ENSP00000508745.1:n.-21-2057C>G | |
| ENST00000687628.1:n.81-2057C>G (ATP7A) | ||
| ENST00000687984.1:c.-21-2057C>G (ATP7A) | ENSP00000510772.1:n.-21-2057C>G | |
| ENST00000688165.1:c.-21-2057C>G (ATP7A) | ENSP00000509828.1:n.-21-2057C>G | |
| ENST00000688249.1:c.-21-2057C>G (ATP7A) | ENSP00000510644.1:n.-21-2057C>G | |
| ENST00000688338.1:c.-21-2057C>G (ATP7A) | ENSP00000508672.1:n.-21-2057C>G | |
| ENST00000688746.1:n.132-2057C>G (ATP7A) | ||
| ENST00000688889.1:c.-21-2057C>G (ATP7A) | ENSP00000508610.1:n.-21-2057C>G | |
| ENST00000689530.1:c.-21-2057C>G (ATP7A) | ENSP00000509707.1:n.-21-2057C>G | |
| ENST00000689541.1:n.289-2057C>G (ATP7A) | ||
| ENST00000689649.1:c.-21-2057C>G (ATP7A) | ENSP00000509277.1:n.-21-2057C>G | |
| ENST00000689731.1:c.-21-2057C>G (ATP7A) | ENSP00000510791.1:n.-21-2057C>G | |
| ENST00000689767.1:c.-21-2057C>G (ATP7A) | ENSP00000509406.1:n.-21-2057C>G | |
| ENST00000689872.1:c.-2078C>G (ATP7A) | ENSP00000509373.1:n.-2078C>G | |
| ENST00000689891.1:c.-21-2057C>G (ATP7A) | ENSP00000508974.1:n.-21-2057C>G | |
| ENST00000691152.1:c.-21-2057C>G (ATP7A) | ENSP00000508843.1:n.-21-2057C>G | |
| ENST00000691456.1:n.271-2057C>G (ATP7A) | ||
| ENST00000692110.1:c.-21-2057C>G (ATP7A) | ENSP00000509366.1:n.-21-2057C>G | |
| ENST00000692729.1:c.-21-2057C>G (ATP7A) | ENSP00000509207.1:n.-21-2057C>G | |
| ENST00000692908.1:c.-21-2057C>G (ATP7A) | ENSP00000508627.1:n.-21-2057C>G | |
| ENST00000693051.1:c.-21-2057C>G (ATP7A) | ENSP00000510332.1:n.-21-2057C>G | |
| ENST00000693167.1:c.-21-2057C>G (ATP7A) | ENSP00000509601.1:n.-21-2057C>G | |
| ENST00000693387.1:c.-21-2057C>G (ATP7A) | ENSP00000508732.1:n.-21-2057C>G | |
| ENST00000693398.1:c.-21-2057C>G (ATP7A) | ENSP00000510089.1:n.-21-2057C>G | |
| ENST00000341514.11:c.-21-2057C>G (ATP7A) MANE Select | ENSP00000345728.6:n.-21-2057C>G | |
| ENST00000458128.3:c.75G>C (PGAM4) MANE Select | ENSP00000412189.1:p.Trp25Cys | |
| ENST00000642651.1:c.-21-2057C>G (ATP7A) | ENSP00000495628.1:n.-21-2057C>G | |
| ENST00000644362.1:c.-20+58729C>G (PGK1) | ENSP00000496140.1:n.-20+58729C>G | |
| ENST00000645094.1:c.-21-2057C>G (ATP7A) | ENSP00000493605.1:n.-21-2057C>G | |
| ENST00000645454.1:c.-21-2057C>G (ATP7A) | ENSP00000496603.1:n.-21-2057C>G | |
| ENST00000341514.10:c.-21-2057C>G (ATP7A) | ENSP00000345728.6:n.-21-2057C>G | |
| ENST00000343533.9:c.-21-2057C>G (ATP7A) | ENSP00000343026.5:n.-21-2057C>G | |
| ENST00000350425.5:c.-21-2057C>G (ATP7A) | ENSP00000343678.5:n.-21-2057C>G | |
| ENST00000458128.2:c.75G>C (PGAM4) | ENSP00000412189.1:p.Trp25Cys | |
| NM_000052.6:c.-21-2057C>G (ATP7A) | NP_000043.4:n.-21-2057C>G | |
| NM_001029891.2:c.75G>C (PGAM4) | NP_001025062.1:p.Trp25Cys | |
| NM_001282224.1:c.-21-2057C>G (ATP7A) | NP_001269153.1:n.-21-2057C>G | |
| NR_104109.1:n.181-2057C>G (ATP7A) | ||
| NM_000052.7:c.-21-2057C>G (ATP7A) MANE Select | NP_000043.4:n.-21-2057C>G | |
| NM_001029891.3:c.75G>C (PGAM4) MANE Select | NP_001025062.1:p.Trp25Cys | |
| NR_104109.2:n.144-2057C>G (ATP7A) | ||
| NM_001282224.2:c.-21-2057C>G (ATP7A) | NP_001269153.1:n.-21-2057C>G |