Revel Score:
ENST00000540853
0.431
ENST00000261196
0.431
ENST00000381545 (MANE Select)
0.431
ENST00000553473
0.431
ENST00000381541
0.431
ENST00000540229
0.431
ENST00000554957
0.431
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20858481A>C , CM000674.2:g.20858481A>C | GRCh38 |
| NC_000012.11:g.21011415A>C , CM000674.1:g.21011415A>C | GRCh37 |
| NC_000012.10:g.20902682A>C | NCBI36 |
| NG_032071.1:g.52778A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381545.8:c.269A>C (SLCO1B3) MANE Select | ENSP00000370956.4:p.Lys90Thr | |
| ENST00000261196.6:c.269A>C (SLCO1B3) | ENSP00000261196.2:p.Lys90Thr | |
| ENST00000381541.7:c.269A>C (SLCO1B3-SLCO1B7) | ENSP00000370952.3:p.Lys90Thr | |
| ENST00000381545.7:c.269A>C (SLCO1B3) | ENSP00000370956.3:p.Lys90Thr | |
| ENST00000540229.1:c.269A>C (SLCO1B3-SLCO1B7) | ENSP00000441269.1:p.Lys90Thr | |
| ENST00000540853.5:c.269A>C (SLCO1B3) | ENSP00000442000.1:p.Lys90Thr | |
| ENST00000545880.1:n.121A>C (SLCO1B3) | ||
| NM_019844.3:c.269A>C (SLCO1B3) | NP_062818.1:p.Lys90Thr | |
| NM_001349920.1:c.185A>C (SLCO1B3) | NP_001336849.1:p.Lys62Thr | |
| NM_001349920.2:c.185A>C (SLCO1B3) | NP_001336849.1:p.Lys62Thr | |
| NM_001371097.1:c.269A>C (SLCO1B3-SLCO1B7) | NP_001358026.1:p.Lys90Thr | |
| NM_019844.4:c.269A>C (SLCO1B3) MANE Select | NP_062818.1:p.Lys90Thr |