gnomAD v4:
Joint Max Group AF
0.00031994 (EAS)
Exomes Max Group AF
0.00038375 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20862972C>A , CM000674.2:g.20862972C>A | GRCh38 |
| NC_000012.11:g.21015906C>A , CM000674.1:g.21015906C>A | GRCh37 |
| NC_000012.10:g.20907173C>A | NCBI36 |
| NG_032071.1:g.57269C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381545.8:c.727+118C>A (SLCO1B3) MANE Select | ENSP00000370956.4:n.727+118C>A | |
| ENST00000261196.6:c.727+118C>A (SLCO1B3) | ENSP00000261196.2:n.727+118C>A | |
| ENST00000381541.7:c.359+4401C>A (SLCO1B3-SLCO1B7) | ENSP00000370952.3:n.359+4401C>A | |
| ENST00000381545.7:c.727+118C>A (SLCO1B3) | ENSP00000370956.3:n.727+118C>A | |
| ENST00000540229.1:c.727+118C>A (SLCO1B3-SLCO1B7) | ENSP00000441269.1:n.727+118C>A | |
| ENST00000540853.5:c.727+118C>A (SLCO1B3) | ENSP00000442000.1:n.727+118C>A | |
| ENST00000544370.1:c.199+118C>A (SLCO1B3) | ENSP00000443225.1:n.199+118C>A | |
| NM_019844.3:c.727+118C>A (SLCO1B3) | NP_062818.1:n.727+118C>A | |
| NM_001349920.1:c.643+118C>A (SLCO1B3) | NP_001336849.1:n.643+118C>A | |
| NM_001349920.2:c.643+118C>A (SLCO1B3) | NP_001336849.1:n.643+118C>A | |
| NM_001371097.1:c.727+118C>A (SLCO1B3-SLCO1B7) | NP_001358026.1:n.727+118C>A | |
| NM_019844.4:c.727+118C>A (SLCO1B3) MANE Select | NP_062818.1:n.727+118C>A |