COSMIC:
COSM3998740 (not active)
Revel Score:
ENST00000540853
0.026
ENST00000261196
0.026
ENST00000381545 (MANE Select)
0.026
ENST00000553473
0.026
ENST00000544370
0.026
ENST00000540229
0.026
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9011117 (SAS)
Genomes Max Group AF
0.8774606 (SAS)
Exomes Max Group AF
0.90133262 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20862826G>A , CM000674.2:g.20862826G>A | GRCh38 |
| NC_000012.11:g.21015760G>A , CM000674.1:g.21015760G>A | GRCh37 |
| NC_000012.10:g.20907027G>A | NCBI36 |
| NG_032071.1:g.57123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381545.8:c.699G>A (SLCO1B3) MANE Select | ENSP00000370956.4:p.Met233Ile | |
| ENST00000261196.6:c.699G>A (SLCO1B3) | ENSP00000261196.2:p.Met233Ile | |
| ENST00000381541.7:c.359+4255G>A (SLCO1B3-SLCO1B7) | ENSP00000370952.3:n.359+4255G>A | |
| ENST00000381545.7:c.699G>A (SLCO1B3) | ENSP00000370956.3:p.Met233Ile | |
| ENST00000540229.1:c.699G>A (SLCO1B3-SLCO1B7) | ENSP00000441269.1:p.Met233Ile | |
| ENST00000540853.5:c.699G>A (SLCO1B3) | ENSP00000442000.1:p.Met233Ile | |
| ENST00000544370.1:c.171G>A (SLCO1B3) | ENSP00000443225.1:p.Met57Ile | |
| NM_019844.3:c.699G>A (SLCO1B3) | NP_062818.1:p.Met233Ile | |
| NM_001349920.1:c.615G>A (SLCO1B3) | NP_001336849.1:p.Met205Ile | |
| NM_001349920.2:c.615G>A (SLCO1B3) | NP_001336849.1:p.Met205Ile | |
| NM_001371097.1:c.699G>A (SLCO1B3-SLCO1B7) | NP_001358026.1:p.Met233Ile | |
| NM_019844.4:c.699G>A (SLCO1B3) MANE Select | NP_062818.1:p.Met233Ile |