Linked Data
ClinVar Variation Id:
465118
dbSNP Id:
rs138154934
ExAC:
X:77289283 A / G
gnomAD v2:
X-77289283-A-G
gnomAD v3:
X-78033785-A-G
gnomAD v4:
X-78033785-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78033785A>G , CM000685.2:g.78033785A>G | GRCh38 |
| NC_000023.10:g.77289283A>G , CM000685.1:g.77289283A>G | GRCh37 |
| NC_000023.9:g.77175939A>G | NCBI36 |
| NG_013224.2:g.128089A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.3505A>G (ATP7A) | ENSP00000343026.6:p.Thr1169Ala | |
| ENST00000682475.1:n.1892A>G (ATP7A) | ||
| ENST00000685033.1:c.739A>G (ATP7A) | ENSP00000509269.1:p.Thr247Ala | |
| ENST00000685264.1:c.3475A>G (ATP7A) | ENSP00000510136.1:p.Thr1159Ala | |
| ENST00000686033.1:c.3280A>G (ATP7A) | ENSP00000510693.1:p.Thr1094Ala | |
| ENST00000686133.1:c.3475A>G (ATP7A) | ENSP00000509233.1:p.Thr1159Ala | |
| ENST00000686255.1:n.2506A>G (ATP7A) | ||
| ENST00000686543.1:c.3241A>G (ATP7A) | ENSP00000509477.1:p.Thr1081Ala | |
| ENST00000687086.1:c.3475A>G (ATP7A) | ENSP00000509566.1:p.Thr1159Ala | |
| ENST00000689514.1:n.1517A>G (ATP7A) | ||
| ENST00000689767.1:c.3568A>G (ATP7A) | ENSP00000509406.1:p.Thr1190Ala | |
| ENST00000692908.1:c.3241A>G (ATP7A) | ENSP00000508627.1:p.Thr1081Ala | |
| ENST00000341514.11:c.3475A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Thr1159Ala | |
| ENST00000644362.1:c.-19-76082A>G (PGK1) | ENSP00000496140.1:n.-19-76082A>G | |
| ENST00000645094.1:c.*3389A>G (ATP7A) | ENSP00000493605.1:n.*3389A>G | |
| ENST00000341514.10:c.3475A>G (ATP7A) | ENSP00000345728.6:p.Thr1159Ala | |
| ENST00000343533.9:c.3241A>G (ATP7A) | ENSP00000343026.5:p.Thr1081Ala | |
| ENST00000350425.5:c.*2648A>G (ATP7A) | ENSP00000343678.5:n.*2648A>G | |
| NM_000052.6:c.3475A>G (ATP7A) | NP_000043.4:p.Thr1159Ala | |
| NM_001282224.1:c.3241A>G (ATP7A) | NP_001269153.1:p.Thr1081Ala | |
| NR_104109.1:n.685A>G (ATP7A) | ||
| NM_000052.7:c.3475A>G (ATP7A) MANE Select | NP_000043.4:p.Thr1159Ala | |
| NR_104109.2:n.648A>G (ATP7A) | ||
| NM_001282224.2:c.3241A>G (ATP7A) | NP_001269153.1:p.Thr1081Ala |