Linked Data
ClinVar Variation Id:
1380117
ClinVar RCV Id:
RCV001886210
dbSNP Id:
rs1557235740
gnomAD v2:
X-77276569-A-G
gnomAD v4:
X-78021072-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78021072A>G , CM000685.2:g.78021072A>G | GRCh38 |
| NC_000023.10:g.77276569A>G , CM000685.1:g.77276569A>G | GRCh37 |
| NC_000023.9:g.77163225A>G | NCBI36 |
| NG_013224.2:g.115376A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343533.10:c.2939A>G (ATP7A) | ENSP00000343026.6:p.Tyr980Cys | |
| ENST00000682475.1:n.1326A>G (ATP7A) | ||
| ENST00000685033.1:c.375+674A>G (ATP7A) | ENSP00000509269.1:n.375+674A>G | |
| ENST00000685264.1:c.2909A>G (ATP7A) | ENSP00000510136.1:p.Tyr970Cys | |
| ENST00000686033.1:c.2909A>G (ATP7A) | ENSP00000510693.1:p.Tyr970Cys | |
| ENST00000686133.1:c.2909A>G (ATP7A) | ENSP00000509233.1:p.Tyr970Cys | |
| ENST00000686255.1:n.1940A>G (ATP7A) | ||
| ENST00000686543.1:c.2675A>G (ATP7A) | ENSP00000509477.1:p.Tyr892Cys | |
| ENST00000687086.1:c.2909A>G (ATP7A) | ENSP00000509566.1:p.Tyr970Cys | |
| ENST00000689514.1:n.951A>G (ATP7A) | ||
| ENST00000689530.1:c.2909A>G (ATP7A) | ENSP00000509707.1:p.Tyr970Cys | |
| ENST00000689767.1:c.3002A>G (ATP7A) | ENSP00000509406.1:p.Tyr1001Cys | |
| ENST00000692908.1:c.2675A>G (ATP7A) | ENSP00000508627.1:p.Tyr892Cys | |
| ENST00000341514.11:c.2909A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Tyr970Cys | |
| ENST00000644362.1:c.-19-88795A>G (PGK1) | ENSP00000496140.1:n.-19-88795A>G | |
| ENST00000645094.1:c.*2823A>G (ATP7A) | ENSP00000493605.1:n.*2823A>G | |
| ENST00000341514.10:c.2909A>G (ATP7A) | ENSP00000345728.6:p.Tyr970Cys | |
| ENST00000343533.9:c.2675A>G (ATP7A) | ENSP00000343026.5:p.Tyr892Cys | |
| ENST00000350425.5:c.*2082A>G (ATP7A) | ENSP00000343678.5:n.*2082A>G | |
| NM_000052.6:c.2909A>G (ATP7A) | NP_000043.4:p.Tyr970Cys | |
| NM_001282224.1:c.2675A>G (ATP7A) | NP_001269153.1:p.Tyr892Cys | |
| NR_104109.1:n.322-10328A>G (ATP7A) | ||
| NM_000052.7:c.2909A>G (ATP7A) MANE Select | NP_000043.4:p.Tyr970Cys | |
| NR_104109.2:n.285-10328A>G (ATP7A) | ||
| NM_001282224.2:c.2675A>G (ATP7A) | NP_001269153.1:p.Tyr892Cys |