Linked Data
ClinVar Variation Id:
245706
dbSNP Id:
rs368917354
ExAC:
X:77294387 A / G
gnomAD v2:
X-77294387-A-G
gnomAD v3:
X-78038889-A-G
gnomAD v4:
X-78038889-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78038889A>G , CM000685.2:g.78038889A>G | GRCh38 |
| NC_000023.10:g.77294387A>G , CM000685.1:g.77294387A>G | GRCh37 |
| NC_000023.9:g.77181043A>G | NCBI36 |
| NG_013224.2:g.133193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.3595A>G (ATP7A) | ENSP00000343026.6:p.Ile1199Val | |
| ENST00000682475.1:n.1982A>G (ATP7A) | ||
| ENST00000685033.1:c.829A>G (ATP7A) | ENSP00000509269.1:p.Ile277Val | |
| ENST00000685264.1:c.3565A>G (ATP7A) | ENSP00000510136.1:p.Ile1189Val | |
| ENST00000686033.1:c.3370A>G (ATP7A) | ENSP00000510693.1:p.Ile1124Val | |
| ENST00000686133.1:c.3565A>G (ATP7A) | ENSP00000509233.1:p.Ile1189Val | |
| ENST00000686255.1:n.2596A>G (ATP7A) | ||
| ENST00000686543.1:c.3331A>G (ATP7A) | ENSP00000509477.1:p.Ile1111Val | |
| ENST00000687086.1:c.3565A>G (ATP7A) | ENSP00000509566.1:p.Ile1189Val | |
| ENST00000689514.1:n.1607A>G (ATP7A) | ||
| ENST00000689767.1:c.3658A>G (ATP7A) | ENSP00000509406.1:p.Ile1220Val | |
| ENST00000692908.1:c.3331A>G (ATP7A) | ENSP00000508627.1:p.Ile1111Val | |
| ENST00000341514.11:c.3565A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Ile1189Val | |
| ENST00000644362.1:c.-19-70978A>G (PGK1) | ENSP00000496140.1:n.-19-70978A>G | |
| ENST00000645094.1:c.*3479A>G (ATP7A) | ENSP00000493605.1:n.*3479A>G | |
| ENST00000341514.10:c.3565A>G (ATP7A) | ENSP00000345728.6:p.Ile1189Val | |
| ENST00000343533.9:c.3331A>G (ATP7A) | ENSP00000343026.5:p.Ile1111Val | |
| ENST00000350425.5:c.*2738A>G (ATP7A) | ENSP00000343678.5:n.*2738A>G | |
| NM_000052.6:c.3565A>G (ATP7A) | NP_000043.4:p.Ile1189Val | |
| NM_001282224.1:c.3331A>G (ATP7A) | NP_001269153.1:p.Ile1111Val | |
| NR_104109.1:n.775A>G (ATP7A) | ||
| NM_000052.7:c.3565A>G (ATP7A) MANE Select | NP_000043.4:p.Ile1189Val | |
| NR_104109.2:n.738A>G (ATP7A) | ||
| NM_001282224.2:c.3331A>G (ATP7A) | NP_001269153.1:p.Ile1111Val |