Linked Data
ClinVar Variation Id:
92382
ClinVar RCV Id:
RCV000078034
RCV000990880
RCV001274024
RCV001554147
RCV001554148
RCV001811355
RCV002311546
dbSNP Id:
rs2227291
ExAC:
X:77268502 G / C
gnomAD v2:
X-77268502-G-C
gnomAD v3:
X-78013005-G-C
gnomAD v4:
X-78013005-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78013005G>C , CM000685.2:g.78013005G>C | GRCh38 |
| NC_000023.10:g.77268502G>C , CM000685.1:g.77268502G>C | GRCh37 |
| NC_000023.9:g.77155158G>C | NCBI36 |
| NG_013224.2:g.107309G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343533.10:c.2329G>C (ATP7A) | ENSP00000343026.6:p.Val777Leu | |
| ENST00000682475.1:n.823+1331G>C (ATP7A) | ||
| ENST00000685264.1:c.2299G>C (ATP7A) | ENSP00000510136.1:p.Val767Leu | |
| ENST00000686033.1:c.2299G>C (ATP7A) | ENSP00000510693.1:p.Val767Leu | |
| ENST00000686133.1:c.2299G>C (ATP7A) | ENSP00000509233.1:p.Val767Leu | |
| ENST00000686255.1:n.1330G>C (ATP7A) | ||
| ENST00000686480.1:c.2172+1331G>C (ATP7A) | ENSP00000508978.1:n.2172+1331G>C | |
| ENST00000686543.1:c.2172+1331G>C (ATP7A) | ENSP00000509477.1:n.2172+1331G>C | |
| ENST00000686688.1:c.2299G>C (ATP7A) | ENSP00000509416.1:p.Val767Leu | |
| ENST00000687086.1:c.2299G>C (ATP7A) | ENSP00000509566.1:p.Val767Leu | |
| ENST00000688746.1:n.3655G>C (ATP7A) | ||
| ENST00000689514.1:n.341G>C (ATP7A) | ||
| ENST00000689530.1:c.2299G>C (ATP7A) | ENSP00000509707.1:p.Val767Leu | |
| ENST00000689649.1:c.2299G>C (ATP7A) | ENSP00000509277.1:p.Val767Leu | |
| ENST00000689767.1:c.2392G>C (ATP7A) | ENSP00000509406.1:p.Val798Leu | |
| ENST00000689872.1:c.*248G>C (ATP7A) | ENSP00000509373.1:n.*248G>C | |
| ENST00000692908.1:c.2172+1331G>C (ATP7A) | ENSP00000508627.1:n.2172+1331G>C | |
| ENST00000693398.1:c.2299G>C (ATP7A) | ENSP00000510089.1:p.Val767Leu | |
| ENST00000341514.11:c.2299G>C (ATP7A) MANE Select | ENSP00000345728.6:p.Val767Leu | |
| ENST00000644362.1:c.-19-96862G>C (PGK1) | ENSP00000496140.1:n.-19-96862G>C | |
| ENST00000645094.1:c.*2213G>C (ATP7A) | ENSP00000493605.1:n.*2213G>C | |
| ENST00000341514.10:c.2299G>C (ATP7A) | ENSP00000345728.6:p.Val767Leu | |
| ENST00000343533.9:c.2172+1331G>C (ATP7A) | ENSP00000343026.5:n.2172+1331G>C | |
| ENST00000350425.5:c.*1472G>C (ATP7A) | ENSP00000343678.5:n.*1472G>C | |
| NM_000052.6:c.2299G>C (ATP7A) | NP_000043.4:p.Val767Leu | |
| NM_001282224.1:c.2172+1331G>C (ATP7A) | NP_001269153.1:n.2172+1331G>C | |
| NR_104109.1:n.322-18395G>C (ATP7A) | ||
| NM_000052.7:c.2299G>C (ATP7A) MANE Select | NP_000043.4:p.Val767Leu | |
| NR_104109.2:n.285-18395G>C (ATP7A) | ||
| NM_001282224.2:c.2172+1331G>C (ATP7A) | NP_001269153.1:n.2172+1331G>C |