Linked Data
ClinVar Variation Id:
11788
ClinVar RCV Id:
RCV000012555
dbSNP Id:
rs72554652
PubMed:
PMID:12221109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78029389G>A , CM000685.2:g.78029389G>A | GRCh38 |
| NC_000023.10:g.77284886G>A , CM000685.1:g.77284886G>A | GRCh37 |
| NC_000023.9:g.77171542G>A | NCBI36 |
| NG_013224.2:g.123693G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343533.10:c.3086G>A (ATP7A) | ENSP00000343026.6:p.Gly1029Asp | |
| ENST00000682475.1:n.1473G>A (ATP7A) | ||
| ENST00000685033.1:c.376-2011G>A (ATP7A) | ENSP00000509269.1:n.376-2011G>A | |
| ENST00000685264.1:c.3056G>A (ATP7A) | ENSP00000510136.1:p.Gly1019Asp | |
| ENST00000686033.1:c.2917-2011G>A (ATP7A) | ENSP00000510693.1:n.2917-2011G>A | |
| ENST00000686133.1:c.3056G>A (ATP7A) | ENSP00000509233.1:p.Gly1019Asp | |
| ENST00000686255.1:n.2087G>A (ATP7A) | ||
| ENST00000686543.1:c.2822G>A (ATP7A) | ENSP00000509477.1:p.Gly941Asp | |
| ENST00000687086.1:c.3056G>A (ATP7A) | ENSP00000509566.1:p.Gly1019Asp | |
| ENST00000689514.1:n.1098G>A (ATP7A) | ||
| ENST00000689767.1:c.3149G>A (ATP7A) | ENSP00000509406.1:p.Gly1050Asp | |
| ENST00000692908.1:c.2822G>A (ATP7A) | ENSP00000508627.1:p.Gly941Asp | |
| ENST00000341514.11:c.3056G>A (ATP7A) MANE Select | ENSP00000345728.6:p.Gly1019Asp | |
| ENST00000644362.1:c.-19-80478G>A (PGK1) | ENSP00000496140.1:n.-19-80478G>A | |
| ENST00000645094.1:c.*2970G>A (ATP7A) | ENSP00000493605.1:n.*2970G>A | |
| ENST00000341514.10:c.3056G>A (ATP7A) | ENSP00000345728.6:p.Gly1019Asp | |
| ENST00000343533.9:c.2822G>A (ATP7A) | ENSP00000343026.5:p.Gly941Asp | |
| ENST00000350425.5:c.*2229G>A (ATP7A) | ENSP00000343678.5:n.*2229G>A | |
| NM_000052.6:c.3056G>A (ATP7A) | NP_000043.4:p.Gly1019Asp | |
| NM_001282224.1:c.2822G>A (ATP7A) | NP_001269153.1:p.Gly941Asp | |
| NR_104109.1:n.322-2011G>A (ATP7A) | ||
| NM_000052.7:c.3056G>A (ATP7A) MANE Select | NP_000043.4:p.Gly1019Asp | |
| NR_104109.2:n.285-2011G>A (ATP7A) | ||
| NM_001282224.2:c.2822G>A (ATP7A) | NP_001269153.1:p.Gly941Asp |