Linked Data
ClinVar Variation Id:
327458
ClinVar RCV Id:
RCV000406330
dbSNP Id:
rs758654293
gnomAD v2:
18-55315189-G-A
gnomAD v3:
18-57647957-G-A
gnomAD v4:
18-57647957-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57647957G>A , CM000680.2:g.57647957G>A | GRCh38 |
| NC_000018.9:g.55315189G>A , CM000680.1:g.55315189G>A | GRCh37 |
| NC_000018.8:g.53466187G>A | NCBI36 |
| NG_007148.2:g.160139C>T | |
| NG_007148.3:g.160866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642462.1:c.*1519C>T (ATP8B1) | ENSP00000494712.1:n.*1519C>T | |
| ENST00000648039.1:c.*1519C>T (ATP8B1) | ENSP00000497863.1:n.*1519C>T | |
| ENST00000648908.2:c.*531C>T (ATP8B1) MANE Select | ENSP00000497896.1:n.*531C>T | |
| ENST00000283684.8:c.4287C>T (ATP8B1) | ENSP00000283684.4:n.4287C>T | |
| ENST00000536015.5:c.*531C>T (ATP8B1) | ENSP00000445359.1:n.*531C>T | |
| NM_001242804.1:c.139+5905G>A (ATP8B1-AS1) | NP_001229733.1:n.139+5905G>A | |
| NM_005603.4:c.*531C>T (ATP8B1) | NP_005594.1:n.*531C>T | |
| XM_006722481.2:c.*531C>T (ATP8B1) | XP_006722544.1:n.*531C>T | |
| XM_011526020.1:c.*531C>T (ATP8B1) | XP_011524322.1:n.*531C>T | |
| XM_011526021.1:c.*531C>T (ATP8B1) | XP_011524323.1:n.*531C>T | |
| XM_011526022.1:c.*531C>T (ATP8B1) | XP_011524324.1:n.*531C>T | |
| XM_011526023.1:c.*531C>T (ATP8B1) | XP_011524325.1:n.*531C>T | |
| XM_011526024.1:c.*531C>T (ATP8B1) | XP_011524326.1:n.*531C>T | |
| NM_005603.6:c.*531C>T (ATP8B1) | NP_005594.2:n.*531C>T | |
| XM_006722481.4:c.*531C>T (ATP8B1) | XP_006722544.1:n.*531C>T | |
| XM_011526023.3:c.*531C>T (ATP8B1) | XP_011524325.1:n.*531C>T | |
| NM_001374385.1:c.*531C>T (ATP8B1) MANE Select | NP_001361314.1:n.*531C>T | |
| NM_001374386.1:c.*531C>T (ATP8B1) | NP_001361315.1:n.*531C>T | |
| NR_164148.1:n.682+5905G>A (ATP8B1-AS1) |