Linked Data
ClinVar Variation Id:
493534
dbSNP Id:
rs1557239111
gnomAD v2:
X-77301874-A-G
gnomAD v4:
X-78046377-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78046377A>G , CM000685.2:g.78046377A>G | GRCh38 |
| NC_000023.10:g.77301874A>G , CM000685.1:g.77301874A>G | GRCh37 |
| NC_000023.9:g.77188530A>G | NCBI36 |
| NG_013224.2:g.140681A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.4340A>G (ATP7A) | ENSP00000343026.6:p.His1447Arg | |
| ENST00000682475.1:n.2727A>G (ATP7A) | ||
| ENST00000685033.1:c.1574A>G (ATP7A) | ENSP00000509269.1:p.His525Arg | |
| ENST00000685264.1:c.4310A>G (ATP7A) | ENSP00000510136.1:p.His1437Arg | |
| ENST00000686033.1:c.4115A>G (ATP7A) | ENSP00000510693.1:p.His1372Arg | |
| ENST00000686133.1:c.4310A>G (ATP7A) | ENSP00000509233.1:p.His1437Arg | |
| ENST00000686255.1:n.3341A>G (ATP7A) | ||
| ENST00000686543.1:c.4076A>G (ATP7A) | ENSP00000509477.1:p.His1359Arg | |
| ENST00000687086.1:c.4310A>G (ATP7A) | ENSP00000509566.1:p.His1437Arg | |
| ENST00000689083.1:n.1605A>G (ATP7A) | ||
| ENST00000689767.1:c.4403A>G (ATP7A) | ENSP00000509406.1:p.His1468Arg | |
| ENST00000692908.1:c.4076A>G (ATP7A) | ENSP00000508627.1:p.His1359Arg | |
| ENST00000341514.11:c.4310A>G (ATP7A) MANE Select | ENSP00000345728.6:p.His1437Arg | |
| ENST00000644362.1:c.-19-63490A>G (PGK1) | ENSP00000496140.1:n.-19-63490A>G | |
| ENST00000341514.10:c.4310A>G (ATP7A) | ENSP00000345728.6:p.His1437Arg | |
| ENST00000343533.9:c.4076A>G (ATP7A) | ENSP00000343026.5:p.His1359Arg | |
| ENST00000350425.5:c.*3483A>G (ATP7A) | ENSP00000343678.5:n.*3483A>G | |
| NM_000052.6:c.4310A>G (ATP7A) | NP_000043.4:p.His1437Arg | |
| NM_001282224.1:c.4076A>G (ATP7A) | NP_001269153.1:p.His1359Arg | |
| NR_104109.1:n.1520A>G (ATP7A) | ||
| NM_000052.7:c.4310A>G (ATP7A) MANE Select | NP_000043.4:p.His1437Arg | |
| NR_104109.2:n.1483A>G (ATP7A) | ||
| NM_001282224.2:c.4076A>G (ATP7A) | NP_001269153.1:p.His1359Arg |