Linked Data
ClinVar Variation Id:
465113
dbSNP Id:
rs372318616
ExAC:
X:77271271 A / T
gnomAD v2:
X-77271271-A-T
gnomAD v3:
X-78015774-A-T
gnomAD v4:
X-78015774-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78015774A>T , CM000685.2:g.78015774A>T | GRCh38 |
| NC_000023.10:g.77271271A>T , CM000685.1:g.77271271A>T | GRCh37 |
| NC_000023.9:g.77157927A>T | NCBI36 |
| NG_013224.2:g.110078A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2549A>T (ATP7A) | ENSP00000343026.6:p.Glu850Val | |
| ENST00000682475.1:n.936A>T (ATP7A) | ||
| ENST00000685033.1:c.113A>T (ATP7A) | ENSP00000509269.1:p.Glu38Val | |
| ENST00000685264.1:c.2519A>T (ATP7A) | ENSP00000510136.1:p.Glu840Val | |
| ENST00000686033.1:c.2519A>T (ATP7A) | ENSP00000510693.1:p.Glu840Val | |
| ENST00000686133.1:c.2519A>T (ATP7A) | ENSP00000509233.1:p.Glu840Val | |
| ENST00000686255.1:n.1550A>T (ATP7A) | ||
| ENST00000686543.1:c.2285A>T (ATP7A) | ENSP00000509477.1:p.Glu762Val | |
| ENST00000686688.1:c.2519A>T (ATP7A) | ENSP00000509416.1:p.Glu840Val | |
| ENST00000687086.1:c.2519A>T (ATP7A) | ENSP00000509566.1:p.Glu840Val | |
| ENST00000689514.1:n.561A>T (ATP7A) | ||
| ENST00000689530.1:c.2519A>T (ATP7A) | ENSP00000509707.1:p.Glu840Val | |
| ENST00000689767.1:c.2612A>T (ATP7A) | ENSP00000509406.1:p.Glu871Val | |
| ENST00000692908.1:c.2285A>T (ATP7A) | ENSP00000508627.1:p.Glu762Val | |
| ENST00000693398.1:c.2519A>T (ATP7A) | ENSP00000510089.1:p.Glu840Val | |
| ENST00000341514.11:c.2519A>T (ATP7A) MANE Select | ENSP00000345728.6:p.Glu840Val | |
| ENST00000644362.1:c.-19-94093A>T (PGK1) | ENSP00000496140.1:n.-19-94093A>T | |
| ENST00000645094.1:c.*2433A>T (ATP7A) | ENSP00000493605.1:n.*2433A>T | |
| ENST00000341514.10:c.2519A>T (ATP7A) | ENSP00000345728.6:p.Glu840Val | |
| ENST00000343533.9:c.2285A>T (ATP7A) | ENSP00000343026.5:p.Glu762Val | |
| ENST00000350425.5:c.*1692A>T (ATP7A) | ENSP00000343678.5:n.*1692A>T | |
| NM_000052.6:c.2519A>T (ATP7A) | NP_000043.4:p.Glu840Val | |
| NM_001282224.1:c.2285A>T (ATP7A) | NP_001269153.1:p.Glu762Val | |
| NR_104109.1:n.322-15626A>T (ATP7A) | ||
| NM_000052.7:c.2519A>T (ATP7A) MANE Select | NP_000043.4:p.Glu840Val | |
| NR_104109.2:n.285-15626A>T (ATP7A) | ||
| NM_001282224.2:c.2285A>T (ATP7A) | NP_001269153.1:p.Glu762Val |