Linked Data
ClinVar Variation Id:
245774
dbSNP Id:
rs370736173
ExAC:
X:77298875 C / T
gnomAD v2:
X-77298875-C-T
gnomAD v3:
X-78043377-C-T
gnomAD v4:
X-78043377-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78043377C>T , CM000685.2:g.78043377C>T | GRCh38 |
| NC_000023.10:g.77298875C>T , CM000685.1:g.77298875C>T | GRCh37 |
| NC_000023.9:g.77185531C>T | NCBI36 |
| NG_013224.2:g.137681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.4096C>T (ATP7A) | ENSP00000343026.6:p.Arg1366Trp | |
| ENST00000682475.1:n.2483C>T (ATP7A) | ||
| ENST00000685033.1:c.1330C>T (ATP7A) | ENSP00000509269.1:p.Arg444Trp | |
| ENST00000685264.1:c.4066C>T (ATP7A) | ENSP00000510136.1:p.Arg1356Trp | |
| ENST00000686033.1:c.3871C>T (ATP7A) | ENSP00000510693.1:p.Arg1291Trp | |
| ENST00000686133.1:c.4066C>T (ATP7A) | ENSP00000509233.1:p.Arg1356Trp | |
| ENST00000686255.1:n.3097C>T (ATP7A) | ||
| ENST00000686543.1:c.3832C>T (ATP7A) | ENSP00000509477.1:p.Arg1278Trp | |
| ENST00000687086.1:c.4066C>T (ATP7A) | ENSP00000509566.1:p.Arg1356Trp | |
| ENST00000689514.1:n.2108C>T (ATP7A) | ||
| ENST00000689767.1:c.4159C>T (ATP7A) | ENSP00000509406.1:p.Arg1387Trp | |
| ENST00000692908.1:c.3832C>T (ATP7A) | ENSP00000508627.1:p.Arg1278Trp | |
| ENST00000341514.11:c.4066C>T (ATP7A) MANE Select | ENSP00000345728.6:p.Arg1356Trp | |
| ENST00000644362.1:c.-19-66490C>T (PGK1) | ENSP00000496140.1:n.-19-66490C>T | |
| ENST00000341514.10:c.4066C>T (ATP7A) | ENSP00000345728.6:p.Arg1356Trp | |
| ENST00000343533.9:c.3832C>T (ATP7A) | ENSP00000343026.5:p.Arg1278Trp | |
| ENST00000350425.5:c.*3239C>T (ATP7A) | ENSP00000343678.5:n.*3239C>T | |
| NM_000052.6:c.4066C>T (ATP7A) | NP_000043.4:p.Arg1356Trp | |
| NM_001282224.1:c.3832C>T (ATP7A) | NP_001269153.1:p.Arg1278Trp | |
| NR_104109.1:n.1276C>T (ATP7A) | ||
| NM_000052.7:c.4066C>T (ATP7A) MANE Select | NP_000043.4:p.Arg1356Trp | |
| NR_104109.2:n.1239C>T (ATP7A) | ||
| NM_001282224.2:c.3832C>T (ATP7A) | NP_001269153.1:p.Arg1278Trp |