Revel Score:
ENST00000540853
0.466
ENST00000261196
0.466
ENST00000381545 (MANE Select)
0.466
ENST00000553473
0.466
ENST00000381541
0.466
ENST00000540229
0.466
ENST00000554957
0.466
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20858549T>A , CM000674.2:g.20858549T>A | GRCh38 |
| NC_000012.11:g.21011483T>A , CM000674.1:g.21011483T>A | GRCh37 |
| NC_000012.10:g.20902750T>A | NCBI36 |
| NG_032071.1:g.52846T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381545.8:c.337T>A (SLCO1B3) MANE Select | ENSP00000370956.4:p.Leu113Ile | |
| ENST00000261196.6:c.337T>A (SLCO1B3) | ENSP00000261196.2:p.Leu113Ile | |
| ENST00000381541.7:c.337T>A (SLCO1B3-SLCO1B7) | ENSP00000370952.3:p.Leu113Ile | |
| ENST00000381545.7:c.337T>A (SLCO1B3) | ENSP00000370956.3:p.Leu113Ile | |
| ENST00000540229.1:c.337T>A (SLCO1B3-SLCO1B7) | ENSP00000441269.1:p.Leu113Ile | |
| ENST00000540853.5:c.337T>A (SLCO1B3) | ENSP00000442000.1:p.Leu113Ile | |
| ENST00000545880.1:n.189T>A (SLCO1B3) | ||
| NM_019844.3:c.337T>A (SLCO1B3) | NP_062818.1:p.Leu113Ile | |
| NM_001349920.1:c.253T>A (SLCO1B3) | NP_001336849.1:p.Leu85Ile | |
| NM_001349920.2:c.253T>A (SLCO1B3) | NP_001336849.1:p.Leu85Ile | |
| NM_001371097.1:c.337T>A (SLCO1B3-SLCO1B7) | NP_001358026.1:p.Leu113Ile | |
| NM_019844.4:c.337T>A (SLCO1B3) MANE Select | NP_062818.1:p.Leu113Ile |