Linked Data
ClinVar Variation Id:
374773
dbSNP Id:
rs372898963
ExAC:
X:77266696 G / C
gnomAD v2:
X-77266696-G-C
gnomAD v3:
X-78011199-G-C
gnomAD v4:
X-78011199-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78011199G>C , CM000685.2:g.78011199G>C | GRCh38 |
| NC_000023.10:g.77266696G>C , CM000685.1:g.77266696G>C | GRCh37 |
| NC_000023.9:g.77153352G>C | NCBI36 |
| NG_013224.2:g.105503G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.1923G>C (ATP7A) | ENSP00000343026.6:p.Leu641Phe | |
| ENST00000682475.1:n.348G>C (ATP7A) | ||
| ENST00000685264.1:c.1893G>C (ATP7A) | ENSP00000510136.1:p.Leu631Phe | |
| ENST00000686033.1:c.1893G>C (ATP7A) | ENSP00000510693.1:p.Leu631Phe | |
| ENST00000686133.1:c.1893G>C (ATP7A) | ENSP00000509233.1:p.Leu631Phe | |
| ENST00000686255.1:n.728G>C (ATP7A) | ||
| ENST00000686480.1:c.1893G>C (ATP7A) | ENSP00000508978.1:p.Leu631Phe | |
| ENST00000686515.1:n.2033G>C (ATP7A) | ||
| ENST00000686543.1:c.1893G>C (ATP7A) | ENSP00000509477.1:p.Leu631Phe | |
| ENST00000686688.1:c.1893G>C (ATP7A) | ENSP00000509416.1:p.Leu631Phe | |
| ENST00000686999.1:n.2204G>C (ATP7A) | ||
| ENST00000687086.1:c.1893G>C (ATP7A) | ENSP00000509566.1:p.Leu631Phe | |
| ENST00000687628.1:n.3906G>C (ATP7A) | ||
| ENST00000688746.1:n.2045G>C (ATP7A) | ||
| ENST00000689530.1:c.1893G>C (ATP7A) | ENSP00000509707.1:p.Leu631Phe | |
| ENST00000689649.1:c.1893G>C (ATP7A) | ENSP00000509277.1:p.Leu631Phe | |
| ENST00000689767.1:c.1986G>C (ATP7A) | ENSP00000509406.1:p.Leu662Phe | |
| ENST00000689872.1:c.1870-250G>C (ATP7A) | ENSP00000509373.1:n.1870-250G>C | |
| ENST00000692110.1:c.1809G>C (ATP7A) | ENSP00000509366.1:p.Leu603Phe | |
| ENST00000692908.1:c.1893G>C (ATP7A) | ENSP00000508627.1:p.Leu631Phe | |
| ENST00000693398.1:c.1893G>C (ATP7A) | ENSP00000510089.1:p.Leu631Phe | |
| ENST00000341514.11:c.1893G>C (ATP7A) MANE Select | ENSP00000345728.6:p.Leu631Phe | |
| ENST00000644362.1:c.-19-98668G>C (PGK1) | ENSP00000496140.1:n.-19-98668G>C | |
| ENST00000645094.1:c.*1807G>C (ATP7A) | ENSP00000493605.1:n.*1807G>C | |
| ENST00000341514.10:c.1893G>C (ATP7A) | ENSP00000345728.6:p.Leu631Phe | |
| ENST00000343533.9:c.1893G>C (ATP7A) | ENSP00000343026.5:p.Leu631Phe | |
| ENST00000350425.5:c.*1066G>C (ATP7A) | ENSP00000343678.5:n.*1066G>C | |
| NM_000052.6:c.1893G>C (ATP7A) | NP_000043.4:p.Leu631Phe | |
| NM_001282224.1:c.1893G>C (ATP7A) | NP_001269153.1:p.Leu631Phe | |
| NR_104109.1:n.322-20201G>C (ATP7A) | ||
| NM_000052.7:c.1893G>C (ATP7A) MANE Select | NP_000043.4:p.Leu631Phe | |
| NR_104109.2:n.285-20201G>C (ATP7A) | ||
| NM_001282224.2:c.1893G>C (ATP7A) | NP_001269153.1:p.Leu631Phe |