Linked Data
ClinVar Variation Id:
493533
dbSNP Id:
rs782260332
ExAC:
X:77271244 T / C
gnomAD v2:
X-77271244-T-C
gnomAD v3:
X-78015747-T-C
gnomAD v4:
X-78015747-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78015747T>C , CM000685.2:g.78015747T>C | GRCh38 |
| NC_000023.10:g.77271244T>C , CM000685.1:g.77271244T>C | GRCh37 |
| NC_000023.9:g.77157900T>C | NCBI36 |
| NG_013224.2:g.110051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2529-7T>C (ATP7A) | ENSP00000343026.6:n.2529-7T>C | |
| ENST00000682475.1:n.916-7T>C (ATP7A) | ||
| ENST00000685033.1:c.93-7T>C (ATP7A) | ENSP00000509269.1:n.93-7T>C | |
| ENST00000685264.1:c.2499-7T>C (ATP7A) | ENSP00000510136.1:n.2499-7T>C | |
| ENST00000686033.1:c.2499-7T>C (ATP7A) | ENSP00000510693.1:n.2499-7T>C | |
| ENST00000686133.1:c.2499-7T>C (ATP7A) | ENSP00000509233.1:n.2499-7T>C | |
| ENST00000686255.1:n.1530-7T>C (ATP7A) | ||
| ENST00000686543.1:c.2265-7T>C (ATP7A) | ENSP00000509477.1:n.2265-7T>C | |
| ENST00000686688.1:c.2499-7T>C (ATP7A) | ENSP00000509416.1:n.2499-7T>C | |
| ENST00000687086.1:c.2499-7T>C (ATP7A) | ENSP00000509566.1:n.2499-7T>C | |
| ENST00000689514.1:n.541-7T>C (ATP7A) | ||
| ENST00000689530.1:c.2499-7T>C (ATP7A) | ENSP00000509707.1:n.2499-7T>C | |
| ENST00000689767.1:c.2592-7T>C (ATP7A) | ENSP00000509406.1:n.2592-7T>C | |
| ENST00000692908.1:c.2265-7T>C (ATP7A) | ENSP00000508627.1:n.2265-7T>C | |
| ENST00000693398.1:c.2499-7T>C (ATP7A) | ENSP00000510089.1:n.2499-7T>C | |
| ENST00000341514.11:c.2499-7T>C (ATP7A) MANE Select | ENSP00000345728.6:n.2499-7T>C | |
| ENST00000644362.1:c.-19-94120T>C (PGK1) | ENSP00000496140.1:n.-19-94120T>C | |
| ENST00000645094.1:c.*2413-7T>C (ATP7A) | ENSP00000493605.1:n.*2413-7T>C | |
| ENST00000341514.10:c.2499-7T>C (ATP7A) | ENSP00000345728.6:n.2499-7T>C | |
| ENST00000343533.9:c.2265-7T>C (ATP7A) | ENSP00000343026.5:n.2265-7T>C | |
| ENST00000350425.5:c.*1672-7T>C (ATP7A) | ENSP00000343678.5:n.*1672-7T>C | |
| NM_000052.6:c.2499-7T>C (ATP7A) | NP_000043.4:n.2499-7T>C | |
| NM_001282224.1:c.2265-7T>C (ATP7A) | NP_001269153.1:n.2265-7T>C | |
| NR_104109.1:n.322-15653T>C (ATP7A) | ||
| NM_000052.7:c.2499-7T>C (ATP7A) MANE Select | NP_000043.4:n.2499-7T>C | |
| NR_104109.2:n.285-15653T>C (ATP7A) | ||
| NM_001282224.2:c.2265-7T>C (ATP7A) | NP_001269153.1:n.2265-7T>C |