Linked Data
ClinVar Variation Id:
521337
dbSNP Id:
rs782774219
ExAC:
X:77301988 A / G
gnomAD v2:
X-77301988-A-G
gnomAD v3:
X-78046491-A-G
gnomAD v4:
X-78046491-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78046491A>G , CM000685.2:g.78046491A>G | GRCh38 |
| NC_000023.10:g.77301988A>G , CM000685.1:g.77301988A>G | GRCh37 |
| NC_000023.9:g.77188644A>G | NCBI36 |
| NG_013224.2:g.140795A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.4454A>G (ATP7A) | ENSP00000343026.6:p.Asn1485Ser | |
| ENST00000682475.1:n.2841A>G (ATP7A) | ||
| ENST00000685033.1:c.1688A>G (ATP7A) | ENSP00000509269.1:p.Asn563Ser | |
| ENST00000685264.1:c.4424A>G (ATP7A) | ENSP00000510136.1:p.Asn1475Ser | |
| ENST00000686033.1:c.4229A>G (ATP7A) | ENSP00000510693.1:p.Asn1410Ser | |
| ENST00000686133.1:c.4424A>G (ATP7A) | ENSP00000509233.1:p.Asn1475Ser | |
| ENST00000686255.1:n.3455A>G (ATP7A) | ||
| ENST00000686543.1:c.4190A>G (ATP7A) | ENSP00000509477.1:p.Asn1397Ser | |
| ENST00000687086.1:c.4424A>G (ATP7A) | ENSP00000509566.1:p.Asn1475Ser | |
| ENST00000689083.1:n.1719A>G (ATP7A) | ||
| ENST00000689767.1:c.4517A>G (ATP7A) | ENSP00000509406.1:p.Asn1506Ser | |
| ENST00000692908.1:c.4190A>G (ATP7A) | ENSP00000508627.1:p.Asn1397Ser | |
| ENST00000341514.11:c.4424A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Asn1475Ser | |
| ENST00000644362.1:c.-19-63376A>G (PGK1) | ENSP00000496140.1:n.-19-63376A>G | |
| ENST00000341514.10:c.4424A>G (ATP7A) | ENSP00000345728.6:p.Asn1475Ser | |
| ENST00000343533.9:c.4190A>G (ATP7A) | ENSP00000343026.5:p.Asn1397Ser | |
| ENST00000350425.5:c.*3597A>G (ATP7A) | ENSP00000343678.5:n.*3597A>G | |
| NM_000052.6:c.4424A>G (ATP7A) | NP_000043.4:p.Asn1475Ser | |
| NM_001282224.1:c.4190A>G (ATP7A) | NP_001269153.1:p.Asn1397Ser | |
| NR_104109.1:n.1634A>G (ATP7A) | ||
| NM_000052.7:c.4424A>G (ATP7A) MANE Select | NP_000043.4:p.Asn1475Ser | |
| NR_104109.2:n.1597A>G (ATP7A) | ||
| NM_001282224.2:c.4190A>G (ATP7A) | NP_001269153.1:p.Asn1397Ser |