Linked Data
ClinVar Variation Id:
1552834
ClinVar RCV Id:
RCV002180399
dbSNP Id:
rs2149095200
MyVariant Identifiers:
chrX:g.77267009T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78011512T>C , CM000685.2:g.78011512T>C | GRCh38 |
| NC_000023.10:g.77267009T>C , CM000685.1:g.77267009T>C | GRCh37 |
| NC_000023.9:g.77153665T>C | NCBI36 |
| NG_013224.2:g.105816T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2040T>C (ATP7A) | ENSP00000343026.6:p.Tyr680= | |
| ENST00000682475.1:n.661T>C (ATP7A) | ||
| ENST00000685264.1:c.2010T>C (ATP7A) | ENSP00000510136.1:p.Tyr670= | |
| ENST00000686033.1:c.2010T>C (ATP7A) | ENSP00000510693.1:p.Tyr670= | |
| ENST00000686133.1:c.2010T>C (ATP7A) | ENSP00000509233.1:p.Tyr670= | |
| ENST00000686255.1:n.1041T>C (ATP7A) | ||
| ENST00000686480.1:c.2010T>C (ATP7A) | ENSP00000508978.1:p.Tyr670= | |
| ENST00000686515.1:n.2150T>C (ATP7A) | ||
| ENST00000686543.1:c.2010T>C (ATP7A) | ENSP00000509477.1:p.Tyr670= | |
| ENST00000686688.1:c.2010T>C (ATP7A) | ENSP00000509416.1:p.Tyr670= | |
| ENST00000686999.1:n.2321T>C (ATP7A) | ||
| ENST00000687086.1:c.2010T>C (ATP7A) | ENSP00000509566.1:p.Tyr670= | |
| ENST00000687628.1:n.4219T>C (ATP7A) | ||
| ENST00000688746.1:n.2162T>C (ATP7A) | ||
| ENST00000689514.1:n.52T>C (ATP7A) | ||
| ENST00000689530.1:c.2010T>C (ATP7A) | ENSP00000509707.1:p.Tyr670= | |
| ENST00000689649.1:c.2010T>C (ATP7A) | ENSP00000509277.1:p.Tyr670= | |
| ENST00000689767.1:c.2103T>C (ATP7A) | ENSP00000509406.1:p.Tyr701= | |
| ENST00000689872.1:c.1933T>C (ATP7A) | ENSP00000509373.1:p.Tyr645His | |
| ENST00000692110.1:c.1926T>C (ATP7A) | ENSP00000509366.1:p.Tyr642= | |
| ENST00000692908.1:c.2010T>C (ATP7A) | ENSP00000508627.1:p.Tyr670= | |
| ENST00000693398.1:c.2010T>C (ATP7A) | ENSP00000510089.1:p.Tyr670= | |
| ENST00000341514.11:c.2010T>C (ATP7A) MANE Select | ENSP00000345728.6:p.Tyr670= | |
| ENST00000644362.1:c.-19-98355T>C (PGK1) | ENSP00000496140.1:n.-19-98355T>C | |
| ENST00000645094.1:c.*1924T>C (ATP7A) | ENSP00000493605.1:n.*1924T>C | |
| ENST00000341514.10:c.2010T>C (ATP7A) | ENSP00000345728.6:p.Tyr670= | |
| ENST00000343533.9:c.2010T>C (ATP7A) | ENSP00000343026.5:p.Tyr670= | |
| ENST00000350425.5:c.*1183T>C (ATP7A) | ENSP00000343678.5:n.*1183T>C | |
| NM_000052.6:c.2010T>C (ATP7A) | NP_000043.4:p.Tyr670= | |
| NM_001282224.1:c.2010T>C (ATP7A) | NP_001269153.1:p.Tyr670= | |
| NR_104109.1:n.322-19888T>C (ATP7A) | ||
| NM_000052.7:c.2010T>C (ATP7A) MANE Select | NP_000043.4:p.Tyr670= | |
| NR_104109.2:n.285-19888T>C (ATP7A) | ||
| NM_001282224.2:c.2010T>C (ATP7A) | NP_001269153.1:p.Tyr670= |