Linked Data
ClinVar Variation Id:
465125
dbSNP Id:
rs1557239138
gnomAD v2:
X-77301986-A-G
gnomAD v3:
X-78046489-A-G
gnomAD v4:
X-78046489-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78046489A>G , CM000685.2:g.78046489A>G | GRCh38 |
| NC_000023.10:g.77301986A>G , CM000685.1:g.77301986A>G | GRCh37 |
| NC_000023.9:g.77188642A>G | NCBI36 |
| NG_013224.2:g.140793A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.4452A>G (ATP7A) | ENSP00000343026.6:p.Leu1484= | |
| ENST00000682475.1:n.2839A>G (ATP7A) | ||
| ENST00000685033.1:c.1686A>G (ATP7A) | ENSP00000509269.1:p.Leu562= | |
| ENST00000685264.1:c.4422A>G (ATP7A) | ENSP00000510136.1:p.Leu1474= | |
| ENST00000686033.1:c.4227A>G (ATP7A) | ENSP00000510693.1:p.Leu1409= | |
| ENST00000686133.1:c.4422A>G (ATP7A) | ENSP00000509233.1:p.Leu1474= | |
| ENST00000686255.1:n.3453A>G (ATP7A) | ||
| ENST00000686543.1:c.4188A>G (ATP7A) | ENSP00000509477.1:p.Leu1396= | |
| ENST00000687086.1:c.4422A>G (ATP7A) | ENSP00000509566.1:p.Leu1474= | |
| ENST00000689083.1:n.1717A>G (ATP7A) | ||
| ENST00000689767.1:c.4515A>G (ATP7A) | ENSP00000509406.1:p.Leu1505= | |
| ENST00000692908.1:c.4188A>G (ATP7A) | ENSP00000508627.1:p.Leu1396= | |
| ENST00000341514.11:c.4422A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Leu1474= | |
| ENST00000644362.1:c.-19-63378A>G (PGK1) | ENSP00000496140.1:n.-19-63378A>G | |
| ENST00000341514.10:c.4422A>G (ATP7A) | ENSP00000345728.6:p.Leu1474= | |
| ENST00000343533.9:c.4188A>G (ATP7A) | ENSP00000343026.5:p.Leu1396= | |
| ENST00000350425.5:c.*3595A>G (ATP7A) | ENSP00000343678.5:n.*3595A>G | |
| NM_000052.6:c.4422A>G (ATP7A) | NP_000043.4:p.Leu1474= | |
| NM_001282224.1:c.4188A>G (ATP7A) | NP_001269153.1:p.Leu1396= | |
| NR_104109.1:n.1632A>G (ATP7A) | ||
| NM_000052.7:c.4422A>G (ATP7A) MANE Select | NP_000043.4:p.Leu1474= | |
| NR_104109.2:n.1595A>G (ATP7A) | ||
| NM_001282224.2:c.4188A>G (ATP7A) | NP_001269153.1:p.Leu1396= |