Linked Data
ClinVar Variation Id:
429717
dbSNP Id:
rs782664014
ExAC:
X:77268428 A / G
gnomAD v2:
X-77268428-A-G
gnomAD v3:
X-78012931-A-G
gnomAD v4:
X-78012931-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78012931A>G , CM000685.2:g.78012931A>G | GRCh38 |
| NC_000023.10:g.77268428A>G , CM000685.1:g.77268428A>G | GRCh37 |
| NC_000023.9:g.77155084A>G | NCBI36 |
| NG_013224.2:g.107235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2255A>G (ATP7A) | ENSP00000343026.6:p.Lys752Arg | |
| ENST00000682475.1:n.823+1257A>G (ATP7A) | ||
| ENST00000685264.1:c.2225A>G (ATP7A) | ENSP00000510136.1:p.Lys742Arg | |
| ENST00000686033.1:c.2225A>G (ATP7A) | ENSP00000510693.1:p.Lys742Arg | |
| ENST00000686133.1:c.2225A>G (ATP7A) | ENSP00000509233.1:p.Lys742Arg | |
| ENST00000686255.1:n.1256A>G (ATP7A) | ||
| ENST00000686480.1:c.2172+1257A>G (ATP7A) | ENSP00000508978.1:n.2172+1257A>G | |
| ENST00000686543.1:c.2172+1257A>G (ATP7A) | ENSP00000509477.1:n.2172+1257A>G | |
| ENST00000686688.1:c.2225A>G (ATP7A) | ENSP00000509416.1:p.Lys742Arg | |
| ENST00000687086.1:c.2225A>G (ATP7A) | ENSP00000509566.1:p.Lys742Arg | |
| ENST00000688746.1:n.3581A>G (ATP7A) | ||
| ENST00000689514.1:n.267A>G (ATP7A) | ||
| ENST00000689530.1:c.2225A>G (ATP7A) | ENSP00000509707.1:p.Lys742Arg | |
| ENST00000689649.1:c.2225A>G (ATP7A) | ENSP00000509277.1:p.Lys742Arg | |
| ENST00000689767.1:c.2318A>G (ATP7A) | ENSP00000509406.1:p.Lys773Arg | |
| ENST00000689872.1:c.*174A>G (ATP7A) | ENSP00000509373.1:n.*174A>G | |
| ENST00000692908.1:c.2172+1257A>G (ATP7A) | ENSP00000508627.1:n.2172+1257A>G | |
| ENST00000693398.1:c.2225A>G (ATP7A) | ENSP00000510089.1:p.Lys742Arg | |
| ENST00000341514.11:c.2225A>G (ATP7A) MANE Select | ENSP00000345728.6:p.Lys742Arg | |
| ENST00000644362.1:c.-19-96936A>G (PGK1) | ENSP00000496140.1:n.-19-96936A>G | |
| ENST00000645094.1:c.*2139A>G (ATP7A) | ENSP00000493605.1:n.*2139A>G | |
| ENST00000341514.10:c.2225A>G (ATP7A) | ENSP00000345728.6:p.Lys742Arg | |
| ENST00000343533.9:c.2172+1257A>G (ATP7A) | ENSP00000343026.5:n.2172+1257A>G | |
| ENST00000350425.5:c.*1398A>G (ATP7A) | ENSP00000343678.5:n.*1398A>G | |
| NM_000052.6:c.2225A>G (ATP7A) | NP_000043.4:p.Lys742Arg | |
| NM_001282224.1:c.2172+1257A>G (ATP7A) | NP_001269153.1:n.2172+1257A>G | |
| NR_104109.1:n.322-18469A>G (ATP7A) | ||
| NM_000052.7:c.2225A>G (ATP7A) MANE Select | NP_000043.4:p.Lys742Arg | |
| NR_104109.2:n.285-18469A>G (ATP7A) | ||
| NM_001282224.2:c.2172+1257A>G (ATP7A) | NP_001269153.1:n.2172+1257A>G |