Linked Data
ClinVar Variation Id:
2174630
ClinVar RCV Id:
RCV002588031
dbSNP Id:
rs1471996737
gnomAD v3:
X-78011614-G-C
gnomAD v4:
X-78011614-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78011614G>C , CM000685.2:g.78011614G>C | GRCh38 |
| NC_000023.10:g.77267111G>C , CM000685.1:g.77267111G>C | GRCh37 |
| NC_000023.9:g.77153767G>C | NCBI36 |
| NG_013224.2:g.105918G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2142G>C (ATP7A) | ENSP00000343026.6:p.Gln714His | |
| ENST00000682475.1:n.763G>C (ATP7A) | ||
| ENST00000685264.1:c.2112G>C (ATP7A) | ENSP00000510136.1:p.Gln704His | |
| ENST00000686033.1:c.2112G>C (ATP7A) | ENSP00000510693.1:p.Gln704His | |
| ENST00000686133.1:c.2112G>C (ATP7A) | ENSP00000509233.1:p.Gln704His | |
| ENST00000686255.1:n.1143G>C (ATP7A) | ||
| ENST00000686480.1:c.2112G>C (ATP7A) | ENSP00000508978.1:p.Gln704His | |
| ENST00000686515.1:n.2252G>C (ATP7A) | ||
| ENST00000686543.1:c.2112G>C (ATP7A) | ENSP00000509477.1:p.Gln704His | |
| ENST00000686688.1:c.2112G>C (ATP7A) | ENSP00000509416.1:p.Gln704His | |
| ENST00000686999.1:n.2423G>C (ATP7A) | ||
| ENST00000687086.1:c.2112G>C (ATP7A) | ENSP00000509566.1:p.Gln704His | |
| ENST00000687628.1:n.4321G>C (ATP7A) | ||
| ENST00000688746.1:n.2264G>C (ATP7A) | ||
| ENST00000689514.1:n.154G>C (ATP7A) | ||
| ENST00000689530.1:c.2112G>C (ATP7A) | ENSP00000509707.1:p.Gln704His | |
| ENST00000689649.1:c.2112G>C (ATP7A) | ENSP00000509277.1:p.Gln704His | |
| ENST00000689767.1:c.2205G>C (ATP7A) | ENSP00000509406.1:p.Gln735His | |
| ENST00000689872.1:c.*61G>C (ATP7A) | ENSP00000509373.1:n.*61G>C | |
| ENST00000692110.1:c.2028G>C (ATP7A) | ENSP00000509366.1:p.Gln676His | |
| ENST00000692908.1:c.2112G>C (ATP7A) | ENSP00000508627.1:p.Gln704His | |
| ENST00000693398.1:c.2112G>C (ATP7A) | ENSP00000510089.1:p.Gln704His | |
| ENST00000341514.11:c.2112G>C (ATP7A) MANE Select | ENSP00000345728.6:p.Gln704His | |
| ENST00000644362.1:c.-19-98253G>C (PGK1) | ENSP00000496140.1:n.-19-98253G>C | |
| ENST00000645094.1:c.*2026G>C (ATP7A) | ENSP00000493605.1:n.*2026G>C | |
| ENST00000341514.10:c.2112G>C (ATP7A) | ENSP00000345728.6:p.Gln704His | |
| ENST00000343533.9:c.2112G>C (ATP7A) | ENSP00000343026.5:p.Gln704His | |
| ENST00000350425.5:c.*1285G>C (ATP7A) | ENSP00000343678.5:n.*1285G>C | |
| NM_000052.6:c.2112G>C (ATP7A) | NP_000043.4:p.Gln704His | |
| NM_001282224.1:c.2112G>C (ATP7A) | NP_001269153.1:p.Gln704His | |
| NR_104109.1:n.322-19786G>C (ATP7A) | ||
| NM_000052.7:c.2112G>C (ATP7A) MANE Select | NP_000043.4:p.Gln704His | |
| NR_104109.2:n.285-19786G>C (ATP7A) | ||
| NM_001282224.2:c.2112G>C (ATP7A) | NP_001269153.1:p.Gln704His |