Revel Score:
ENST00000283684
0.099
ENST00000536015
0.099
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99848521 (NFE)
Genomes Max Group AF
0.99370226 (NFE)
Exomes Max Group AF
0.99843928 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57650444C>T , CM000680.2:g.57650444C>T | GRCh38 |
| NC_000018.9:g.55317676C>T , CM000680.1:g.55317676C>T | GRCh37 |
| NC_000018.8:g.53468674C>T | NCBI36 |
| NG_007148.3:g.158379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642462.1:c.*686G>A (ATP8B1) | ENSP00000494712.1:n.*686G>A | |
| ENST00000648039.1:c.*686G>A (ATP8B1) | ENSP00000497863.1:n.*686G>A | |
| ENST00000648908.2:c.3454G>A (ATP8B1) MANE Select | ENSP00000497896.1:p.Ala1152Thr | |
| ENST00000283684.8:c.3454G>A (ATP8B1) | ENSP00000283684.4:p.Ala1152Thr | |
| ENST00000536015.5:c.3454G>A (ATP8B1) | ENSP00000445359.1:p.Ala1152Thr | |
| NM_001242804.1:c.139+8392C>T (ATP8B1-AS1) | NP_001229733.1:n.139+8392C>T | |
| XM_006722481.2:c.3454G>A (ATP8B1) | XP_006722544.1:p.Ala1152Thr | |
| XM_011526020.1:c.3454G>A (ATP8B1) | XP_011524322.1:p.Ala1152Thr | |
| XM_011526021.1:c.3454G>A (ATP8B1) | XP_011524323.1:p.Ala1152Thr | |
| XM_011526022.1:c.3454G>A (ATP8B1) | XP_011524324.1:p.Ala1152Thr | |
| XM_011526023.1:c.3340G>A (ATP8B1) | XP_011524325.1:p.Ala1114Thr | |
| XM_011526024.1:c.2734G>A (ATP8B1) | XP_011524326.1:p.Ala912Thr | |
| NM_005603.6:c.3454G>A (ATP8B1) | NP_005594.2:p.Ala1152Thr | |
| XM_006722481.4:c.3454G>A (ATP8B1) | XP_006722544.1:p.Ala1152Thr | |
| XM_011526023.3:c.3340G>A (ATP8B1) | XP_011524325.1:p.Ala1114Thr | |
| NM_001374385.1:c.3454G>A (ATP8B1) MANE Select | NP_001361314.1:p.Ala1152Thr | |
| NM_001374386.1:c.3304G>A (ATP8B1) | NP_001361315.1:p.Ala1102Thr | |
| NR_164148.1:n.682+8392C>T (ATP8B1-AS1) |