Linked Data
ClinVar Variation Id:
243112
dbSNP Id:
rs367775730
ExAC:
X:77271283 G / A
gnomAD v2:
X-77271283-G-A
gnomAD v3:
X-78015786-G-A
gnomAD v4:
X-78015786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78015786G>A , CM000685.2:g.78015786G>A | GRCh38 |
| NC_000023.10:g.77271283G>A , CM000685.1:g.77271283G>A | GRCh37 |
| NC_000023.9:g.77157939G>A | NCBI36 |
| NG_013224.2:g.110090G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2561G>A (ATP7A) | ENSP00000343026.6:p.Arg854His | |
| ENST00000682475.1:n.948G>A (ATP7A) | ||
| ENST00000685033.1:c.125G>A (ATP7A) | ENSP00000509269.1:p.Arg42His | |
| ENST00000685264.1:c.2531G>A (ATP7A) | ENSP00000510136.1:p.Arg844His | |
| ENST00000686033.1:c.2531G>A (ATP7A) | ENSP00000510693.1:p.Arg844His | |
| ENST00000686133.1:c.2531G>A (ATP7A) | ENSP00000509233.1:p.Arg844His | |
| ENST00000686255.1:n.1562G>A (ATP7A) | ||
| ENST00000686543.1:c.2297G>A (ATP7A) | ENSP00000509477.1:p.Arg766His | |
| ENST00000686688.1:c.2531G>A (ATP7A) | ENSP00000509416.1:p.Arg844His | |
| ENST00000687086.1:c.2531G>A (ATP7A) | ENSP00000509566.1:p.Arg844His | |
| ENST00000689514.1:n.573G>A (ATP7A) | ||
| ENST00000689530.1:c.2531G>A (ATP7A) | ENSP00000509707.1:p.Arg844His | |
| ENST00000689767.1:c.2624G>A (ATP7A) | ENSP00000509406.1:p.Arg875His | |
| ENST00000692908.1:c.2297G>A (ATP7A) | ENSP00000508627.1:p.Arg766His | |
| ENST00000693398.1:c.2531G>A (ATP7A) | ENSP00000510089.1:p.Arg844His | |
| ENST00000341514.11:c.2531G>A (ATP7A) MANE Select | ENSP00000345728.6:p.Arg844His | |
| ENST00000644362.1:c.-19-94081G>A (PGK1) | ENSP00000496140.1:n.-19-94081G>A | |
| ENST00000645094.1:c.*2445G>A (ATP7A) | ENSP00000493605.1:n.*2445G>A | |
| ENST00000341514.10:c.2531G>A (ATP7A) | ENSP00000345728.6:p.Arg844His | |
| ENST00000343533.9:c.2297G>A (ATP7A) | ENSP00000343026.5:p.Arg766His | |
| ENST00000350425.5:c.*1704G>A (ATP7A) | ENSP00000343678.5:n.*1704G>A | |
| NM_000052.6:c.2531G>A (ATP7A) | NP_000043.4:p.Arg844His | |
| NM_001282224.1:c.2297G>A (ATP7A) | NP_001269153.1:p.Arg766His | |
| NR_104109.1:n.322-15614G>A (ATP7A) | ||
| NM_000052.7:c.2531G>A (ATP7A) MANE Select | NP_000043.4:p.Arg844His | |
| NR_104109.2:n.285-15614G>A (ATP7A) | ||
| NM_001282224.2:c.2297G>A (ATP7A) | NP_001269153.1:p.Arg766His |