Linked Data
ClinVar Variation Id:
465122
dbSNP Id:
rs5959130
ExAC:
X:77301044 G / C
gnomAD v2:
X-77301044-G-C
gnomAD v3:
X-78045547-G-C
gnomAD v4:
X-78045547-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78045547G>C , CM000685.2:g.78045547G>C | GRCh38 |
| NC_000023.10:g.77301044G>C , CM000685.1:g.77301044G>C | GRCh37 |
| NC_000023.9:g.77187700G>C | NCBI36 |
| NG_013224.2:g.139851G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.4231G>C (ATP7A) | ENSP00000343026.6:p.Val1411Leu | |
| ENST00000682475.1:n.2618G>C (ATP7A) | ||
| ENST00000685033.1:c.1465G>C (ATP7A) | ENSP00000509269.1:p.Val489Leu | |
| ENST00000685264.1:c.4201G>C (ATP7A) | ENSP00000510136.1:p.Val1401Leu | |
| ENST00000686033.1:c.4006G>C (ATP7A) | ENSP00000510693.1:p.Val1336Leu | |
| ENST00000686133.1:c.4201G>C (ATP7A) | ENSP00000509233.1:p.Val1401Leu | |
| ENST00000686255.1:n.3232G>C (ATP7A) | ||
| ENST00000686543.1:c.3967G>C (ATP7A) | ENSP00000509477.1:p.Val1323Leu | |
| ENST00000687086.1:c.4201G>C (ATP7A) | ENSP00000509566.1:p.Val1401Leu | |
| ENST00000689083.1:n.1496G>C (ATP7A) | ||
| ENST00000689767.1:c.4294G>C (ATP7A) | ENSP00000509406.1:p.Val1432Leu | |
| ENST00000692908.1:c.3967G>C (ATP7A) | ENSP00000508627.1:p.Val1323Leu | |
| ENST00000341514.11:c.4201G>C (ATP7A) MANE Select | ENSP00000345728.6:p.Val1401Leu | |
| ENST00000644362.1:c.-19-64320G>C (PGK1) | ENSP00000496140.1:n.-19-64320G>C | |
| ENST00000341514.10:c.4201G>C (ATP7A) | ENSP00000345728.6:p.Val1401Leu | |
| ENST00000343533.9:c.3967G>C (ATP7A) | ENSP00000343026.5:p.Val1323Leu | |
| ENST00000350425.5:c.*3374G>C (ATP7A) | ENSP00000343678.5:n.*3374G>C | |
| NM_000052.6:c.4201G>C (ATP7A) | NP_000043.4:p.Val1401Leu | |
| NM_001282224.1:c.3967G>C (ATP7A) | NP_001269153.1:p.Val1323Leu | |
| NR_104109.1:n.1411G>C (ATP7A) | ||
| NM_000052.7:c.4201G>C (ATP7A) MANE Select | NP_000043.4:p.Val1401Leu | |
| NR_104109.2:n.1374G>C (ATP7A) | ||
| NM_001282224.2:c.3967G>C (ATP7A) | NP_001269153.1:p.Val1323Leu |