Linked Data
ClinVar Variation Id:
453061
dbSNP Id:
rs368982547
ExAC:
X:77245158 T / C
gnomAD v2:
X-77245158-T-C
gnomAD v3:
X-77989662-T-C
gnomAD v4:
X-77989662-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77989662T>C , CM000685.2:g.77989662T>C | GRCh38 |
| NC_000023.10:g.77245158T>C , CM000685.1:g.77245158T>C | GRCh37 |
| NC_000023.9:g.77131814T>C | NCBI36 |
| NG_013224.2:g.83966T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.1070T>C (ATP7A) | ENSP00000343026.6:p.Ile357Thr | |
| ENST00000682742.2:n.1202T>C (ATP7A) | ||
| ENST00000685208.1:n.1703T>C (ATP7A) | ||
| ENST00000685264.1:c.1040T>C (ATP7A) | ENSP00000510136.1:p.Ile347Thr | |
| ENST00000685434.1:n.1158T>C (ATP7A) | ||
| ENST00000685885.1:c.1076T>C (ATP7A) | ENSP00000510005.1:p.Ile359Thr | |
| ENST00000686033.1:c.1040T>C (ATP7A) | ENSP00000510693.1:p.Ile347Thr | |
| ENST00000686133.1:c.1040T>C (ATP7A) | ENSP00000509233.1:p.Ile347Thr | |
| ENST00000686416.1:n.1394T>C (ATP7A) | ||
| ENST00000686480.1:c.1040T>C (ATP7A) | ENSP00000508978.1:p.Ile347Thr | |
| ENST00000686515.1:n.1180T>C (ATP7A) | ||
| ENST00000686543.1:c.1040T>C (ATP7A) | ENSP00000509477.1:p.Ile347Thr | |
| ENST00000686688.1:c.1040T>C (ATP7A) | ENSP00000509416.1:p.Ile347Thr | |
| ENST00000686999.1:n.1351T>C (ATP7A) | ||
| ENST00000687086.1:c.1040T>C (ATP7A) | ENSP00000509566.1:p.Ile347Thr | |
| ENST00000687416.1:c.1040T>C (ATP7A) | ENSP00000510310.1:p.Ile347Thr | |
| ENST00000687599.1:c.1040T>C (ATP7A) | ENSP00000508745.1:p.Ile347Thr | |
| ENST00000687628.1:n.1141T>C (ATP7A) | ||
| ENST00000687984.1:c.1040T>C (ATP7A) | ENSP00000510772.1:p.Ile347Thr | |
| ENST00000688249.1:c.1040T>C (ATP7A) | ENSP00000510644.1:p.Ile347Thr | |
| ENST00000688338.1:c.1040T>C (ATP7A) | ENSP00000508672.1:p.Ile347Thr | |
| ENST00000688746.1:n.1192T>C (ATP7A) | ||
| ENST00000688889.1:c.*954T>C (ATP7A) | ENSP00000508610.1:n.*954T>C | |
| ENST00000689530.1:c.1040T>C (ATP7A) | ENSP00000509707.1:p.Ile347Thr | |
| ENST00000689541.1:n.1349T>C (ATP7A) | ||
| ENST00000689649.1:c.1040T>C (ATP7A) | ENSP00000509277.1:p.Ile347Thr | |
| ENST00000689767.1:c.1040T>C (ATP7A) | ENSP00000509406.1:p.Ile347Thr | |
| ENST00000689872.1:c.1040T>C (ATP7A) | ENSP00000509373.1:p.Ile347Thr | |
| ENST00000689891.1:c.1040T>C (ATP7A) | ENSP00000508974.1:p.Ile347Thr | |
| ENST00000691152.1:c.1040T>C (ATP7A) | ENSP00000508843.1:p.Ile347Thr | |
| ENST00000691456.1:n.1331T>C (ATP7A) | ||
| ENST00000692110.1:c.1040T>C (ATP7A) | ENSP00000509366.1:p.Ile347Thr | |
| ENST00000692908.1:c.1040T>C (ATP7A) | ENSP00000508627.1:p.Ile347Thr | |
| ENST00000693051.1:c.1040T>C (ATP7A) | ENSP00000510332.1:p.Ile347Thr | |
| ENST00000693387.1:c.*969T>C (ATP7A) | ENSP00000508732.1:n.*969T>C | |
| ENST00000693398.1:c.1040T>C (ATP7A) | ENSP00000510089.1:p.Ile347Thr | |
| ENST00000341514.11:c.1040T>C (ATP7A) MANE Select | ENSP00000345728.6:p.Ile347Thr | |
| ENST00000644362.1:c.-20+78827T>C (PGK1) | ENSP00000496140.1:n.-20+78827T>C | |
| ENST00000645094.1:c.*954T>C (ATP7A) | ENSP00000493605.1:n.*954T>C | |
| ENST00000341514.10:c.1040T>C (ATP7A) | ENSP00000345728.6:p.Ile347Thr | |
| ENST00000343533.9:c.1040T>C (ATP7A) | ENSP00000343026.5:p.Ile347Thr | |
| ENST00000350425.5:c.*213T>C (ATP7A) | ENSP00000343678.5:n.*213T>C | |
| NM_000052.6:c.1040T>C (ATP7A) | NP_000043.4:p.Ile347Thr | |
| NM_001282224.1:c.1040T>C (ATP7A) | NP_001269153.1:p.Ile347Thr | |
| NR_104109.1:n.321+17901T>C (ATP7A) | ||
| NM_000052.7:c.1040T>C (ATP7A) MANE Select | NP_000043.4:p.Ile347Thr | |
| NR_104109.2:n.284+17901T>C (ATP7A) | ||
| NM_001282224.2:c.1040T>C (ATP7A) | NP_001269153.1:p.Ile347Thr |