Linked Data
ClinVar Variation Id:
372700
dbSNP Id:
rs539177302
ExAC:
X:77243895 C / T
gnomAD v2:
X-77243895-C-T
gnomAD v3:
X-77988399-C-T
gnomAD v4:
X-77988399-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77988399C>T , CM000685.2:g.77988399C>T | GRCh38 |
| NC_000023.10:g.77243895C>T , CM000685.1:g.77243895C>T | GRCh37 |
| NC_000023.9:g.77130551C>T | NCBI36 |
| NG_013224.2:g.82703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.308C>T (ATP7A) | ENSP00000343026.6:p.Thr103Met | |
| ENST00000682742.2:n.440C>T (ATP7A) | ||
| ENST00000685208.1:n.440C>T (ATP7A) | ||
| ENST00000685264.1:c.278C>T (ATP7A) | ENSP00000510136.1:p.Thr93Met | |
| ENST00000685434.1:n.396C>T (ATP7A) | ||
| ENST00000685885.1:c.314C>T (ATP7A) | ENSP00000510005.1:p.Thr105Met | |
| ENST00000686033.1:c.278C>T (ATP7A) | ENSP00000510693.1:p.Thr93Met | |
| ENST00000686133.1:c.278C>T (ATP7A) | ENSP00000509233.1:p.Thr93Met | |
| ENST00000686416.1:n.632C>T (ATP7A) | ||
| ENST00000686480.1:c.278C>T (ATP7A) | ENSP00000508978.1:p.Thr93Met | |
| ENST00000686515.1:n.418C>T (ATP7A) | ||
| ENST00000686543.1:c.278C>T (ATP7A) | ENSP00000509477.1:p.Thr93Met | |
| ENST00000686688.1:c.278C>T (ATP7A) | ENSP00000509416.1:p.Thr93Met | |
| ENST00000686999.1:n.589C>T (ATP7A) | ||
| ENST00000687082.1:n.396C>T (ATP7A) | ||
| ENST00000687086.1:c.278C>T (ATP7A) | ENSP00000509566.1:p.Thr93Met | |
| ENST00000687325.1:n.581C>T (ATP7A) | ||
| ENST00000687416.1:c.278C>T (ATP7A) | ENSP00000510310.1:p.Thr93Met | |
| ENST00000687599.1:c.278C>T (ATP7A) | ENSP00000508745.1:p.Thr93Met | |
| ENST00000687628.1:n.379C>T (ATP7A) | ||
| ENST00000687984.1:c.278C>T (ATP7A) | ENSP00000510772.1:p.Thr93Met | |
| ENST00000688249.1:c.278C>T (ATP7A) | ENSP00000510644.1:p.Thr93Met | |
| ENST00000688338.1:c.278C>T (ATP7A) | ENSP00000508672.1:p.Thr93Met | |
| ENST00000688746.1:n.430C>T (ATP7A) | ||
| ENST00000688889.1:c.*192C>T (ATP7A) | ENSP00000508610.1:n.*192C>T | |
| ENST00000689530.1:c.278C>T (ATP7A) | ENSP00000509707.1:p.Thr93Met | |
| ENST00000689541.1:n.587C>T (ATP7A) | ||
| ENST00000689649.1:c.278C>T (ATP7A) | ENSP00000509277.1:p.Thr93Met | |
| ENST00000689767.1:c.278C>T (ATP7A) | ENSP00000509406.1:p.Thr93Met | |
| ENST00000689872.1:c.278C>T (ATP7A) | ENSP00000509373.1:p.Thr93Met | |
| ENST00000689891.1:c.278C>T (ATP7A) | ENSP00000508974.1:p.Thr93Met | |
| ENST00000691152.1:c.278C>T (ATP7A) | ENSP00000508843.1:p.Thr93Met | |
| ENST00000691456.1:n.569C>T (ATP7A) | ||
| ENST00000692110.1:c.278C>T (ATP7A) | ENSP00000509366.1:p.Thr93Met | |
| ENST00000692908.1:c.278C>T (ATP7A) | ENSP00000508627.1:p.Thr93Met | |
| ENST00000693051.1:c.278C>T (ATP7A) | ENSP00000510332.1:p.Thr93Met | |
| ENST00000693387.1:c.*207C>T (ATP7A) | ENSP00000508732.1:n.*207C>T | |
| ENST00000693398.1:c.278C>T (ATP7A) | ENSP00000510089.1:p.Thr93Met | |
| ENST00000341514.11:c.278C>T (ATP7A) MANE Select | ENSP00000345728.6:p.Thr93Met | |
| ENST00000644362.1:c.-20+77564C>T (PGK1) | ENSP00000496140.1:n.-20+77564C>T | |
| ENST00000645094.1:c.*192C>T (ATP7A) | ENSP00000493605.1:n.*192C>T | |
| ENST00000341514.10:c.278C>T (ATP7A) | ENSP00000345728.6:p.Thr93Met | |
| ENST00000343533.9:c.278C>T (ATP7A) | ENSP00000343026.5:p.Thr93Met | |
| ENST00000350425.5:c.278C>T (ATP7A) | ENSP00000343678.5:p.Thr93Met | |
| NM_000052.6:c.278C>T (ATP7A) | NP_000043.4:p.Thr93Met | |
| NM_001282224.1:c.278C>T (ATP7A) | NP_001269153.1:p.Thr93Met | |
| NR_104109.1:n.321+16638C>T (ATP7A) | ||
| NM_000052.7:c.278C>T (ATP7A) MANE Select | NP_000043.4:p.Thr93Met | |
| NR_104109.2:n.284+16638C>T (ATP7A) | ||
| NM_001282224.2:c.278C>T (ATP7A) | NP_001269153.1:p.Thr93Met |