Linked Data
ClinVar Variation Id:
210477
dbSNP Id:
rs2228447
ExAC:
X:77244182 A / G
gnomAD v2:
X-77244182-A-G
gnomAD v3:
X-77988686-A-G
gnomAD v4:
X-77988686-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77988686A>G , CM000685.2:g.77988686A>G | GRCh38 |
| NC_000023.10:g.77244182A>G , CM000685.1:g.77244182A>G | GRCh37 |
| NC_000023.9:g.77130838A>G | NCBI36 |
| NG_013224.2:g.82990A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.595A>G (ATP7A) | ENSP00000343026.6:p.Ile199Val | |
| ENST00000682742.2:n.727A>G (ATP7A) | ||
| ENST00000685208.1:n.727A>G (ATP7A) | ||
| ENST00000685264.1:c.565A>G (ATP7A) | ENSP00000510136.1:p.Ile189Val | |
| ENST00000685434.1:n.683A>G (ATP7A) | ||
| ENST00000685885.1:c.601A>G (ATP7A) | ENSP00000510005.1:p.Ile201Val | |
| ENST00000686033.1:c.565A>G (ATP7A) | ENSP00000510693.1:p.Ile189Val | |
| ENST00000686133.1:c.565A>G (ATP7A) | ENSP00000509233.1:p.Ile189Val | |
| ENST00000686416.1:n.919A>G (ATP7A) | ||
| ENST00000686480.1:c.565A>G (ATP7A) | ENSP00000508978.1:p.Ile189Val | |
| ENST00000686515.1:n.705A>G (ATP7A) | ||
| ENST00000686543.1:c.565A>G (ATP7A) | ENSP00000509477.1:p.Ile189Val | |
| ENST00000686688.1:c.565A>G (ATP7A) | ENSP00000509416.1:p.Ile189Val | |
| ENST00000686999.1:n.876A>G (ATP7A) | ||
| ENST00000687082.1:n.683A>G (ATP7A) | ||
| ENST00000687086.1:c.565A>G (ATP7A) | ENSP00000509566.1:p.Ile189Val | |
| ENST00000687325.1:n.868A>G (ATP7A) | ||
| ENST00000687416.1:c.565A>G (ATP7A) | ENSP00000510310.1:p.Ile189Val | |
| ENST00000687599.1:c.565A>G (ATP7A) | ENSP00000508745.1:p.Ile189Val | |
| ENST00000687628.1:n.666A>G (ATP7A) | ||
| ENST00000687984.1:c.565A>G (ATP7A) | ENSP00000510772.1:p.Ile189Val | |
| ENST00000688249.1:c.565A>G (ATP7A) | ENSP00000510644.1:p.Ile189Val | |
| ENST00000688338.1:c.565A>G (ATP7A) | ENSP00000508672.1:p.Ile189Val | |
| ENST00000688746.1:n.717A>G (ATP7A) | ||
| ENST00000688889.1:c.*479A>G (ATP7A) | ENSP00000508610.1:n.*479A>G | |
| ENST00000689530.1:c.565A>G (ATP7A) | ENSP00000509707.1:p.Ile189Val | |
| ENST00000689541.1:n.874A>G (ATP7A) | ||
| ENST00000689649.1:c.565A>G (ATP7A) | ENSP00000509277.1:p.Ile189Val | |
| ENST00000689767.1:c.565A>G (ATP7A) | ENSP00000509406.1:p.Ile189Val | |
| ENST00000689872.1:c.565A>G (ATP7A) | ENSP00000509373.1:p.Ile189Val | |
| ENST00000689891.1:c.565A>G (ATP7A) | ENSP00000508974.1:p.Ile189Val | |
| ENST00000691152.1:c.565A>G (ATP7A) | ENSP00000508843.1:p.Ile189Val | |
| ENST00000691456.1:n.856A>G (ATP7A) | ||
| ENST00000692110.1:c.565A>G (ATP7A) | ENSP00000509366.1:p.Ile189Val | |
| ENST00000692908.1:c.565A>G (ATP7A) | ENSP00000508627.1:p.Ile189Val | |
| ENST00000693051.1:c.565A>G (ATP7A) | ENSP00000510332.1:p.Ile189Val | |
| ENST00000693387.1:c.*494A>G (ATP7A) | ENSP00000508732.1:n.*494A>G | |
| ENST00000693398.1:c.565A>G (ATP7A) | ENSP00000510089.1:p.Ile189Val | |
| ENST00000341514.11:c.565A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Ile189Val | |
| ENST00000644362.1:c.-20+77851A>G (PGK1) | ENSP00000496140.1:n.-20+77851A>G | |
| ENST00000645094.1:c.*479A>G (ATP7A) | ENSP00000493605.1:n.*479A>G | |
| ENST00000341514.10:c.565A>G (ATP7A) | ENSP00000345728.6:p.Ile189Val | |
| ENST00000343533.9:c.565A>G (ATP7A) | ENSP00000343026.5:p.Ile189Val | |
| ENST00000350425.5:c.565A>G (ATP7A) | ENSP00000343678.5:p.Ile189Val | |
| NM_000052.6:c.565A>G (ATP7A) | NP_000043.4:p.Ile189Val | |
| NM_001282224.1:c.565A>G (ATP7A) | NP_001269153.1:p.Ile189Val | |
| NR_104109.1:n.321+16925A>G (ATP7A) | ||
| NM_000052.7:c.565A>G (ATP7A) MANE Select | NP_000043.4:p.Ile189Val | |
| NR_104109.2:n.284+16925A>G (ATP7A) | ||
| NM_001282224.2:c.565A>G (ATP7A) | NP_001269153.1:p.Ile189Val |