Linked Data
ClinVar Variation Id:
2158882
ClinVar RCV Id:
RCV003069993
dbSNP Id:
rs782625441
ExAC:
X:77268403 C / A
gnomAD v2:
X-77268403-C-A
gnomAD v4:
X-78012906-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78012906C>A , CM000685.2:g.78012906C>A | GRCh38 |
| NC_000023.10:g.77268403C>A , CM000685.1:g.77268403C>A | GRCh37 |
| NC_000023.9:g.77155059C>A | NCBI36 |
| NG_013224.2:g.107210C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2230C>A (ATP7A) | ENSP00000343026.6:p.Gln744Lys | |
| ENST00000682475.1:n.823+1232C>A (ATP7A) | ||
| ENST00000685264.1:c.2200C>A (ATP7A) | ENSP00000510136.1:p.Gln734Lys | |
| ENST00000686033.1:c.2200C>A (ATP7A) | ENSP00000510693.1:p.Gln734Lys | |
| ENST00000686133.1:c.2200C>A (ATP7A) | ENSP00000509233.1:p.Gln734Lys | |
| ENST00000686255.1:n.1231C>A (ATP7A) | ||
| ENST00000686480.1:c.2172+1232C>A (ATP7A) | ENSP00000508978.1:n.2172+1232C>A | |
| ENST00000686543.1:c.2172+1232C>A (ATP7A) | ENSP00000509477.1:n.2172+1232C>A | |
| ENST00000686688.1:c.2200C>A (ATP7A) | ENSP00000509416.1:p.Gln734Lys | |
| ENST00000687086.1:c.2200C>A (ATP7A) | ENSP00000509566.1:p.Gln734Lys | |
| ENST00000688746.1:n.3556C>A (ATP7A) | ||
| ENST00000689514.1:n.242C>A (ATP7A) | ||
| ENST00000689530.1:c.2200C>A (ATP7A) | ENSP00000509707.1:p.Gln734Lys | |
| ENST00000689649.1:c.2200C>A (ATP7A) | ENSP00000509277.1:p.Gln734Lys | |
| ENST00000689767.1:c.2293C>A (ATP7A) | ENSP00000509406.1:p.Gln765Lys | |
| ENST00000689872.1:c.*149C>A (ATP7A) | ENSP00000509373.1:n.*149C>A | |
| ENST00000692908.1:c.2172+1232C>A (ATP7A) | ENSP00000508627.1:n.2172+1232C>A | |
| ENST00000693398.1:c.2200C>A (ATP7A) | ENSP00000510089.1:p.Gln734Lys | |
| ENST00000341514.11:c.2200C>A (ATP7A) MANE Select | ENSP00000345728.6:p.Gln734Lys | |
| ENST00000644362.1:c.-19-96961C>A (PGK1) | ENSP00000496140.1:n.-19-96961C>A | |
| ENST00000645094.1:c.*2114C>A (ATP7A) | ENSP00000493605.1:n.*2114C>A | |
| ENST00000341514.10:c.2200C>A (ATP7A) | ENSP00000345728.6:p.Gln734Lys | |
| ENST00000343533.9:c.2172+1232C>A (ATP7A) | ENSP00000343026.5:n.2172+1232C>A | |
| ENST00000350425.5:c.*1373C>A (ATP7A) | ENSP00000343678.5:n.*1373C>A | |
| NM_000052.6:c.2200C>A (ATP7A) | NP_000043.4:p.Gln734Lys | |
| NM_001282224.1:c.2172+1232C>A (ATP7A) | NP_001269153.1:n.2172+1232C>A | |
| NR_104109.1:n.322-18494C>A (ATP7A) | ||
| NM_000052.7:c.2200C>A (ATP7A) MANE Select | NP_000043.4:p.Gln734Lys | |
| NR_104109.2:n.285-18494C>A (ATP7A) | ||
| NM_001282224.2:c.2172+1232C>A (ATP7A) | NP_001269153.1:n.2172+1232C>A |