Linked Data
ClinVar Variation Id:
286355
dbSNP Id:
rs139012426
ExAC:
18:55315751 G / C
gnomAD v2:
18-55315751-G-C
gnomAD v3:
18-57648519-G-C
gnomAD v4:
18-57648519-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57648519G>C , CM000680.2:g.57648519G>C | GRCh38 |
| NC_000018.9:g.55315751G>C , CM000680.1:g.55315751G>C | GRCh37 |
| NC_000018.8:g.53466749G>C | NCBI36 |
| NG_007148.2:g.159577C>G | |
| NG_007148.3:g.160304C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642462.1:c.*957C>G (ATP8B1) | ENSP00000494712.1:n.*957C>G | |
| ENST00000648039.1:c.*957C>G (ATP8B1) | ENSP00000497863.1:n.*957C>G | |
| ENST00000648908.2:c.3725C>G (ATP8B1) MANE Select | ENSP00000497896.1:p.Thr1242Ser | |
| ENST00000283684.8:c.3725C>G (ATP8B1) | ENSP00000283684.4:p.Thr1242Ser | |
| ENST00000536015.5:c.3725C>G (ATP8B1) | ENSP00000445359.1:p.Thr1242Ser | |
| NM_001242804.1:c.139+6467G>C (ATP8B1-AS1) | NP_001229733.1:n.139+6467G>C | |
| NM_005603.4:c.3725C>G (ATP8B1) | NP_005594.1:p.Thr1242Ser | |
| XM_006722481.2:c.3725C>G (ATP8B1) | XP_006722544.1:p.Thr1242Ser | |
| XM_011526020.1:c.3725C>G (ATP8B1) | XP_011524322.1:p.Thr1242Ser | |
| XM_011526021.1:c.3725C>G (ATP8B1) | XP_011524323.1:p.Thr1242Ser | |
| XM_011526022.1:c.3725C>G (ATP8B1) | XP_011524324.1:p.Thr1242Ser | |
| XM_011526023.1:c.3611C>G (ATP8B1) | XP_011524325.1:p.Thr1204Ser | |
| XM_011526024.1:c.3005C>G (ATP8B1) | XP_011524326.1:p.Thr1002Ser | |
| NM_005603.6:c.3725C>G (ATP8B1) | NP_005594.2:p.Thr1242Ser | |
| XM_006722481.4:c.3725C>G (ATP8B1) | XP_006722544.1:p.Thr1242Ser | |
| XM_011526023.3:c.3611C>G (ATP8B1) | XP_011524325.1:p.Thr1204Ser | |
| NM_001374385.1:c.3725C>G (ATP8B1) MANE Select | NP_001361314.1:p.Thr1242Ser | |
| NM_001374386.1:c.3575C>G (ATP8B1) | NP_001361315.1:p.Thr1192Ser | |
| NR_164148.1:n.682+6467G>C (ATP8B1-AS1) |