Linked Data
ClinVar Variation Id:
392215
dbSNP Id:
rs181435872
ExAC:
X:77286898 G / A
gnomAD v2:
X-77286898-G-A
gnomAD v3:
X-78031400-G-A
gnomAD v4:
X-78031400-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78031400G>A , CM000685.2:g.78031400G>A | GRCh38 |
| NC_000023.10:g.77286898G>A , CM000685.1:g.77286898G>A | GRCh37 |
| NC_000023.9:g.77173554G>A | NCBI36 |
| NG_013224.2:g.125704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.3142G>A (ATP7A) | ENSP00000343026.6:p.Val1048Ile | |
| ENST00000682475.1:n.1529G>A (ATP7A) | ||
| ENST00000685033.1:c.376G>A (ATP7A) | ENSP00000509269.1:p.Val126Ile | |
| ENST00000685264.1:c.3112G>A (ATP7A) | ENSP00000510136.1:p.Val1038Ile | |
| ENST00000686033.1:c.2917G>A (ATP7A) | ENSP00000510693.1:p.Val973Ile | |
| ENST00000686133.1:c.3112G>A (ATP7A) | ENSP00000509233.1:p.Val1038Ile | |
| ENST00000686255.1:n.2143G>A (ATP7A) | ||
| ENST00000686543.1:c.2878G>A (ATP7A) | ENSP00000509477.1:p.Val960Ile | |
| ENST00000687086.1:c.3112G>A (ATP7A) | ENSP00000509566.1:p.Val1038Ile | |
| ENST00000689514.1:n.1154G>A (ATP7A) | ||
| ENST00000689767.1:c.3205G>A (ATP7A) | ENSP00000509406.1:p.Val1069Ile | |
| ENST00000692908.1:c.2878G>A (ATP7A) | ENSP00000508627.1:p.Val960Ile | |
| ENST00000341514.11:c.3112G>A (ATP7A) MANE Select | ENSP00000345728.6:p.Val1038Ile | |
| ENST00000644362.1:c.-19-78467G>A (PGK1) | ENSP00000496140.1:n.-19-78467G>A | |
| ENST00000645094.1:c.*3026G>A (ATP7A) | ENSP00000493605.1:n.*3026G>A | |
| ENST00000341514.10:c.3112G>A (ATP7A) | ENSP00000345728.6:p.Val1038Ile | |
| ENST00000343533.9:c.2878G>A (ATP7A) | ENSP00000343026.5:p.Val960Ile | |
| ENST00000350425.5:c.*2285G>A (ATP7A) | ENSP00000343678.5:n.*2285G>A | |
| NM_000052.6:c.3112G>A (ATP7A) | NP_000043.4:p.Val1038Ile | |
| NM_001282224.1:c.2878G>A (ATP7A) | NP_001269153.1:p.Val960Ile | |
| NR_104109.1:n.322G>A (ATP7A) | ||
| NM_000052.7:c.3112G>A (ATP7A) MANE Select | NP_000043.4:p.Val1038Ile | |
| NR_104109.2:n.285G>A (ATP7A) | ||
| NM_001282224.2:c.2878G>A (ATP7A) | NP_001269153.1:p.Val960Ile |