Linked Data
ClinVar Variation Id:
234270
dbSNP Id:
rs374162669
ExAC:
X:77271282 C / T
gnomAD v2:
X-77271282-C-T
gnomAD v3:
X-78015785-C-T
gnomAD v4:
X-78015785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78015785C>T , CM000685.2:g.78015785C>T | GRCh38 |
| NC_000023.10:g.77271282C>T , CM000685.1:g.77271282C>T | GRCh37 |
| NC_000023.9:g.77157938C>T | NCBI36 |
| NG_013224.2:g.110089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2560C>T (ATP7A) | ENSP00000343026.6:p.Arg854Cys | |
| ENST00000682475.1:n.947C>T (ATP7A) | ||
| ENST00000685033.1:c.124C>T (ATP7A) | ENSP00000509269.1:p.Arg42Cys | |
| ENST00000685264.1:c.2530C>T (ATP7A) | ENSP00000510136.1:p.Arg844Cys | |
| ENST00000686033.1:c.2530C>T (ATP7A) | ENSP00000510693.1:p.Arg844Cys | |
| ENST00000686133.1:c.2530C>T (ATP7A) | ENSP00000509233.1:p.Arg844Cys | |
| ENST00000686255.1:n.1561C>T (ATP7A) | ||
| ENST00000686543.1:c.2296C>T (ATP7A) | ENSP00000509477.1:p.Arg766Cys | |
| ENST00000686688.1:c.2530C>T (ATP7A) | ENSP00000509416.1:p.Arg844Cys | |
| ENST00000687086.1:c.2530C>T (ATP7A) | ENSP00000509566.1:p.Arg844Cys | |
| ENST00000689514.1:n.572C>T (ATP7A) | ||
| ENST00000689530.1:c.2530C>T (ATP7A) | ENSP00000509707.1:p.Arg844Cys | |
| ENST00000689767.1:c.2623C>T (ATP7A) | ENSP00000509406.1:p.Arg875Cys | |
| ENST00000692908.1:c.2296C>T (ATP7A) | ENSP00000508627.1:p.Arg766Cys | |
| ENST00000693398.1:c.2530C>T (ATP7A) | ENSP00000510089.1:p.Arg844Cys | |
| ENST00000341514.11:c.2530C>T (ATP7A) MANE Select | ENSP00000345728.6:p.Arg844Cys | |
| ENST00000644362.1:c.-19-94082C>T (PGK1) | ENSP00000496140.1:n.-19-94082C>T | |
| ENST00000645094.1:c.*2444C>T (ATP7A) | ENSP00000493605.1:n.*2444C>T | |
| ENST00000341514.10:c.2530C>T (ATP7A) | ENSP00000345728.6:p.Arg844Cys | |
| ENST00000343533.9:c.2296C>T (ATP7A) | ENSP00000343026.5:p.Arg766Cys | |
| ENST00000350425.5:c.*1703C>T (ATP7A) | ENSP00000343678.5:n.*1703C>T | |
| NM_000052.6:c.2530C>T (ATP7A) | NP_000043.4:p.Arg844Cys | |
| NM_001282224.1:c.2296C>T (ATP7A) | NP_001269153.1:p.Arg766Cys | |
| NR_104109.1:n.322-15615C>T (ATP7A) | ||
| NM_000052.7:c.2530C>T (ATP7A) MANE Select | NP_000043.4:p.Arg844Cys | |
| NR_104109.2:n.285-15615C>T (ATP7A) | ||
| NM_001282224.2:c.2296C>T (ATP7A) | NP_001269153.1:p.Arg766Cys |