Linked Data
ClinVar Variation Id:
7263
dbSNP Id:
rs121909098
ExAC:
18:55328439 C / T
gnomAD v2:
18-55328439-C-T
gnomAD v3:
18-57661207-C-T
gnomAD v4:
18-57661207-C-T
PubMed:
PMID:9500542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57661207C>T , CM000680.2:g.57661207C>T | GRCh38 |
| NC_000018.9:g.55328439C>T , CM000680.1:g.55328439C>T | GRCh37 |
| NC_000018.8:g.53479437C>T | NCBI36 |
| NG_007148.2:g.146889G>A | |
| NG_007148.3:g.147616G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642462.1:c.2674G>A (ATP8B1) | ENSP00000494712.1:p.Gly892Arg | |
| ENST00000648039.1:c.2674G>A (ATP8B1) | ENSP00000497863.1:p.Gly892Arg | |
| ENST00000648908.2:c.2674G>A (ATP8B1) MANE Select | ENSP00000497896.1:p.Gly892Arg | |
| ENST00000283684.8:c.2674G>A (ATP8B1) | ENSP00000283684.4:p.Gly892Arg | |
| ENST00000536015.5:c.2674G>A (ATP8B1) | ENSP00000445359.1:p.Gly892Arg | |
| NM_001242804.1:c.140-6799C>T (ATP8B1-AS1) | NP_001229733.1:n.140-6799C>T | |
| NM_005603.4:c.2674G>A (ATP8B1) | NP_005594.1:p.Gly892Arg | |
| XM_006722481.2:c.2674G>A (ATP8B1) | XP_006722544.1:p.Gly892Arg | |
| XM_011526020.1:c.2674G>A (ATP8B1) | XP_011524322.1:p.Gly892Arg | |
| XM_011526021.1:c.2674G>A (ATP8B1) | XP_011524323.1:p.Gly892Arg | |
| XM_011526022.1:c.2674G>A (ATP8B1) | XP_011524324.1:p.Gly892Arg | |
| XM_011526023.1:c.2560G>A (ATP8B1) | XP_011524325.1:p.Gly854Arg | |
| XM_011526024.1:c.1954G>A (ATP8B1) | XP_011524326.1:p.Gly652Arg | |
| NM_005603.6:c.2674G>A (ATP8B1) | NP_005594.2:p.Gly892Arg | |
| XM_006722481.4:c.2674G>A (ATP8B1) | XP_006722544.1:p.Gly892Arg | |
| XM_011526023.3:c.2560G>A (ATP8B1) | XP_011524325.1:p.Gly854Arg | |
| NM_001374385.1:c.2674G>A (ATP8B1) MANE Select | NP_001361314.1:p.Gly892Arg | |
| NM_001374386.1:c.2524G>A (ATP8B1) | NP_001361315.1:p.Gly842Arg | |
| NR_164148.1:n.683-6799C>T (ATP8B1-AS1) |