Linked Data
dbSNP Id:
rs760232101
ExAC:
12:21011396 G / C
gnomAD v2:
12-21011396-G-C
gnomAD v4:
12-20858462-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20858462G>C , CM000674.2:g.20858462G>C | GRCh38 |
| NC_000012.11:g.21011396G>C , CM000674.1:g.21011396G>C | GRCh37 |
| NC_000012.10:g.20902663G>C | NCBI36 |
| NG_032071.1:g.52759G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381545.8:c.250G>C (SLCO1B3) MANE Select | ENSP00000370956.4:p.Val84Leu | |
| ENST00000261196.6:c.250G>C (SLCO1B3) | ENSP00000261196.2:p.Val84Leu | |
| ENST00000381541.7:c.250G>C (SLCO1B3-SLCO1B7) | ENSP00000370952.3:p.Val84Leu | |
| ENST00000381545.7:c.250G>C (SLCO1B3) | ENSP00000370956.3:p.Val84Leu | |
| ENST00000540229.1:c.250G>C (SLCO1B3-SLCO1B7) | ENSP00000441269.1:p.Val84Leu | |
| ENST00000540853.5:c.250G>C (SLCO1B3) | ENSP00000442000.1:p.Val84Leu | |
| ENST00000545880.1:n.102G>C (SLCO1B3) | ||
| NM_019844.3:c.250G>C (SLCO1B3) | NP_062818.1:p.Val84Leu | |
| NM_001349920.1:c.166G>C (SLCO1B3) | NP_001336849.1:p.Val56Leu | |
| NM_001349920.2:c.166G>C (SLCO1B3) | NP_001336849.1:p.Val56Leu | |
| NM_001371097.1:c.250G>C (SLCO1B3-SLCO1B7) | NP_001358026.1:p.Val84Leu | |
| NM_019844.4:c.250G>C (SLCO1B3) MANE Select | NP_062818.1:p.Val84Leu |