Linked Data
ClinVar Variation Id:
210466
dbSNP Id:
rs139781067
ExAC:
X:77298212 A / G
gnomAD v2:
X-77298212-A-G
gnomAD v3:
X-78042714-A-G
gnomAD v4:
X-78042714-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78042714A>G , CM000685.2:g.78042714A>G | GRCh38 |
| NC_000023.10:g.77298212A>G , CM000685.1:g.77298212A>G | GRCh37 |
| NC_000023.9:g.77184868A>G | NCBI36 |
| NG_013224.2:g.137018A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.3961A>G (ATP7A) | ENSP00000343026.6:p.Met1321Val | |
| ENST00000682475.1:n.2348A>G (ATP7A) | ||
| ENST00000685033.1:c.1195A>G (ATP7A) | ENSP00000509269.1:p.Met399Val | |
| ENST00000685264.1:c.3931A>G (ATP7A) | ENSP00000510136.1:p.Met1311Val | |
| ENST00000686033.1:c.3736A>G (ATP7A) | ENSP00000510693.1:p.Met1246Val | |
| ENST00000686133.1:c.3931A>G (ATP7A) | ENSP00000509233.1:p.Met1311Val | |
| ENST00000686255.1:n.2962A>G (ATP7A) | ||
| ENST00000686543.1:c.3697A>G (ATP7A) | ENSP00000509477.1:p.Met1233Val | |
| ENST00000687086.1:c.3931A>G (ATP7A) | ENSP00000509566.1:p.Met1311Val | |
| ENST00000689514.1:n.1973A>G (ATP7A) | ||
| ENST00000689767.1:c.4024A>G (ATP7A) | ENSP00000509406.1:p.Met1342Val | |
| ENST00000692908.1:c.3697A>G (ATP7A) | ENSP00000508627.1:p.Met1233Val | |
| ENST00000341514.11:c.3931A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Met1311Val | |
| ENST00000644362.1:c.-19-67153A>G (PGK1) | ENSP00000496140.1:n.-19-67153A>G | |
| ENST00000341514.10:c.3931A>G (ATP7A) | ENSP00000345728.6:p.Met1311Val | |
| ENST00000343533.9:c.3697A>G (ATP7A) | ENSP00000343026.5:p.Met1233Val | |
| ENST00000350425.5:c.*3104A>G (ATP7A) | ENSP00000343678.5:n.*3104A>G | |
| NM_000052.6:c.3931A>G (ATP7A) | NP_000043.4:p.Met1311Val | |
| NM_001282224.1:c.3697A>G (ATP7A) | NP_001269153.1:p.Met1233Val | |
| NR_104109.1:n.1141A>G (ATP7A) | ||
| NM_000052.7:c.3931A>G (ATP7A) MANE Select | NP_000043.4:p.Met1311Val | |
| NR_104109.2:n.1104A>G (ATP7A) | ||
| NM_001282224.2:c.3697A>G (ATP7A) | NP_001269153.1:p.Met1233Val |