Linked Data
ClinVar Variation Id:
533673
dbSNP Id:
rs201999500
ExAC:
X:77254023 C / T
gnomAD v2:
X-77254023-C-T
gnomAD v3:
X-77998526-C-T
gnomAD v4:
X-77998526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77998526C>T , CM000685.2:g.77998526C>T | GRCh38 |
| NC_000023.10:g.77254023C>T , CM000685.1:g.77254023C>T | GRCh37 |
| NC_000023.9:g.77140679C>T | NCBI36 |
| NG_013224.2:g.92830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.1415C>T (ATP7A) | ENSP00000343026.6:p.Pro472Leu | |
| ENST00000682742.2:n.1547C>T (ATP7A) | ||
| ENST00000685264.1:c.1385C>T (ATP7A) | ENSP00000510136.1:p.Pro462Leu | |
| ENST00000685434.1:n.1455-36C>T (ATP7A) | ||
| ENST00000686033.1:c.1385C>T (ATP7A) | ENSP00000510693.1:p.Pro462Leu | |
| ENST00000686133.1:c.1385C>T (ATP7A) | ENSP00000509233.1:p.Pro462Leu | |
| ENST00000686416.1:n.1739C>T (ATP7A) | ||
| ENST00000686480.1:c.1385C>T (ATP7A) | ENSP00000508978.1:p.Pro462Leu | |
| ENST00000686515.1:n.1525C>T (ATP7A) | ||
| ENST00000686543.1:c.1385C>T (ATP7A) | ENSP00000509477.1:p.Pro462Leu | |
| ENST00000686688.1:c.1385C>T (ATP7A) | ENSP00000509416.1:p.Pro462Leu | |
| ENST00000686999.1:n.1696C>T (ATP7A) | ||
| ENST00000687086.1:c.1385C>T (ATP7A) | ENSP00000509566.1:p.Pro462Leu | |
| ENST00000687416.1:c.1385C>T (ATP7A) | ENSP00000510310.1:p.Pro462Leu | |
| ENST00000687628.1:n.1486C>T (ATP7A) | ||
| ENST00000688249.1:c.1385C>T (ATP7A) | ENSP00000510644.1:p.Pro462Leu | |
| ENST00000688338.1:c.1385C>T (ATP7A) | ENSP00000508672.1:p.Pro462Leu | |
| ENST00000688746.1:n.1537C>T (ATP7A) | ||
| ENST00000689530.1:c.1385C>T (ATP7A) | ENSP00000509707.1:p.Pro462Leu | |
| ENST00000689541.1:n.1694C>T (ATP7A) | ||
| ENST00000689649.1:c.1385C>T (ATP7A) | ENSP00000509277.1:p.Pro462Leu | |
| ENST00000689767.1:c.1385C>T (ATP7A) | ENSP00000509406.1:p.Pro462Leu | |
| ENST00000689872.1:c.1385C>T (ATP7A) | ENSP00000509373.1:p.Pro462Leu | |
| ENST00000691456.1:n.1676C>T (ATP7A) | ||
| ENST00000692110.1:c.1337-36C>T (ATP7A) | ENSP00000509366.1:n.1337-36C>T | |
| ENST00000692908.1:c.1385C>T (ATP7A) | ENSP00000508627.1:p.Pro462Leu | |
| ENST00000693051.1:c.1385C>T (ATP7A) | ENSP00000510332.1:p.Pro462Leu | |
| ENST00000693387.1:c.*1314C>T (ATP7A) | ENSP00000508732.1:n.*1314C>T | |
| ENST00000693398.1:c.1385C>T (ATP7A) | ENSP00000510089.1:p.Pro462Leu | |
| ENST00000341514.11:c.1385C>T (ATP7A) MANE Select | ENSP00000345728.6:p.Pro462Leu | |
| ENST00000644362.1:c.-20+87691C>T (PGK1) | ENSP00000496140.1:n.-20+87691C>T | |
| ENST00000645094.1:c.*1299C>T (ATP7A) | ENSP00000493605.1:n.*1299C>T | |
| ENST00000341514.10:c.1385C>T (ATP7A) | ENSP00000345728.6:p.Pro462Leu | |
| ENST00000343533.9:c.1385C>T (ATP7A) | ENSP00000343026.5:p.Pro462Leu | |
| ENST00000350425.5:c.*558C>T (ATP7A) | ENSP00000343678.5:n.*558C>T | |
| NM_000052.6:c.1385C>T (ATP7A) | NP_000043.4:p.Pro462Leu | |
| NM_001282224.1:c.1385C>T (ATP7A) | NP_001269153.1:p.Pro462Leu | |
| NR_104109.1:n.321+26765C>T (ATP7A) | ||
| NM_000052.7:c.1385C>T (ATP7A) MANE Select | NP_000043.4:p.Pro462Leu | |
| NR_104109.2:n.284+26765C>T (ATP7A) | ||
| NM_001282224.2:c.1385C>T (ATP7A) | NP_001269153.1:p.Pro462Leu |