Linked Data
ClinVar Variation Id:
533684
dbSNP Id:
rs782094358
ExAC:
X:77284778 C / T
gnomAD v2:
X-77284778-C-T
gnomAD v3:
X-78029281-C-T
gnomAD v4:
X-78029281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78029281C>T , CM000685.2:g.78029281C>T | GRCh38 |
| NC_000023.10:g.77284778C>T , CM000685.1:g.77284778C>T | GRCh37 |
| NC_000023.9:g.77171434C>T | NCBI36 |
| NG_013224.2:g.123585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2978C>T (ATP7A) | ENSP00000343026.6:p.Thr993Met | |
| ENST00000682475.1:n.1365C>T (ATP7A) | ||
| ENST00000685033.1:c.376-2119C>T (ATP7A) | ENSP00000509269.1:n.376-2119C>T | |
| ENST00000685264.1:c.2948C>T (ATP7A) | ENSP00000510136.1:p.Thr983Met | |
| ENST00000686033.1:c.2917-2119C>T (ATP7A) | ENSP00000510693.1:n.2917-2119C>T | |
| ENST00000686133.1:c.2948C>T (ATP7A) | ENSP00000509233.1:p.Thr983Met | |
| ENST00000686255.1:n.1979C>T (ATP7A) | ||
| ENST00000686543.1:c.2714C>T (ATP7A) | ENSP00000509477.1:p.Thr905Met | |
| ENST00000687086.1:c.2948C>T (ATP7A) | ENSP00000509566.1:p.Thr983Met | |
| ENST00000689514.1:n.990C>T (ATP7A) | ||
| ENST00000689767.1:c.3041C>T (ATP7A) | ENSP00000509406.1:p.Thr1014Met | |
| ENST00000692908.1:c.2714C>T (ATP7A) | ENSP00000508627.1:p.Thr905Met | |
| ENST00000341514.11:c.2948C>T (ATP7A) MANE Select | ENSP00000345728.6:p.Thr983Met | |
| ENST00000644362.1:c.-19-80586C>T (PGK1) | ENSP00000496140.1:n.-19-80586C>T | |
| ENST00000645094.1:c.*2862C>T (ATP7A) | ENSP00000493605.1:n.*2862C>T | |
| ENST00000341514.10:c.2948C>T (ATP7A) | ENSP00000345728.6:p.Thr983Met | |
| ENST00000343533.9:c.2714C>T (ATP7A) | ENSP00000343026.5:p.Thr905Met | |
| ENST00000350425.5:c.*2121C>T (ATP7A) | ENSP00000343678.5:n.*2121C>T | |
| NM_000052.6:c.2948C>T (ATP7A) | NP_000043.4:p.Thr983Met | |
| NM_001282224.1:c.2714C>T (ATP7A) | NP_001269153.1:p.Thr905Met | |
| NR_104109.1:n.322-2119C>T (ATP7A) | ||
| NM_000052.7:c.2948C>T (ATP7A) MANE Select | NP_000043.4:p.Thr983Met | |
| NR_104109.2:n.285-2119C>T (ATP7A) | ||
| NM_001282224.2:c.2714C>T (ATP7A) | NP_001269153.1:p.Thr905Met |