Linked Data
ClinVar Variation Id:
210436
dbSNP Id:
rs138958687
ExAC:
X:77276563 A / G
gnomAD v2:
X-77276563-A-G
gnomAD v3:
X-78021066-A-G
gnomAD v4:
X-78021066-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78021066A>G , CM000685.2:g.78021066A>G | GRCh38 |
| NC_000023.10:g.77276563A>G , CM000685.1:g.77276563A>G | GRCh37 |
| NC_000023.9:g.77163219A>G | NCBI36 |
| NG_013224.2:g.115370A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343533.10:c.2933A>G (ATP7A) | ENSP00000343026.6:p.Glu978Gly | |
| ENST00000682475.1:n.1320A>G (ATP7A) | ||
| ENST00000685033.1:c.375+668A>G (ATP7A) | ENSP00000509269.1:n.375+668A>G | |
| ENST00000685264.1:c.2903A>G (ATP7A) | ENSP00000510136.1:p.Glu968Gly | |
| ENST00000686033.1:c.2903A>G (ATP7A) | ENSP00000510693.1:p.Glu968Gly | |
| ENST00000686133.1:c.2903A>G (ATP7A) | ENSP00000509233.1:p.Glu968Gly | |
| ENST00000686255.1:n.1934A>G (ATP7A) | ||
| ENST00000686543.1:c.2669A>G (ATP7A) | ENSP00000509477.1:p.Glu890Gly | |
| ENST00000687086.1:c.2903A>G (ATP7A) | ENSP00000509566.1:p.Glu968Gly | |
| ENST00000689514.1:n.945A>G (ATP7A) | ||
| ENST00000689530.1:c.2903A>G (ATP7A) | ENSP00000509707.1:p.Glu968Gly | |
| ENST00000689767.1:c.2996A>G (ATP7A) | ENSP00000509406.1:p.Glu999Gly | |
| ENST00000692908.1:c.2669A>G (ATP7A) | ENSP00000508627.1:p.Glu890Gly | |
| ENST00000341514.11:c.2903A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Glu968Gly | |
| ENST00000644362.1:c.-19-88801A>G (PGK1) | ENSP00000496140.1:n.-19-88801A>G | |
| ENST00000645094.1:c.*2817A>G (ATP7A) | ENSP00000493605.1:n.*2817A>G | |
| ENST00000341514.10:c.2903A>G (ATP7A) | ENSP00000345728.6:p.Glu968Gly | |
| ENST00000343533.9:c.2669A>G (ATP7A) | ENSP00000343026.5:p.Glu890Gly | |
| ENST00000350425.5:c.*2076A>G (ATP7A) | ENSP00000343678.5:n.*2076A>G | |
| NM_000052.6:c.2903A>G (ATP7A) | NP_000043.4:p.Glu968Gly | |
| NM_001282224.1:c.2669A>G (ATP7A) | NP_001269153.1:p.Glu890Gly | |
| NR_104109.1:n.322-10334A>G (ATP7A) | ||
| NM_000052.7:c.2903A>G (ATP7A) MANE Select | NP_000043.4:p.Glu968Gly | |
| NR_104109.2:n.285-10334A>G (ATP7A) | ||
| NM_001282224.2:c.2669A>G (ATP7A) | NP_001269153.1:p.Glu890Gly |