Linked Data
dbSNP Id:
rs1865188780
gnomAD v3:
12-20858543-A-ACATCTTTAC
gnomAD v4:
12-20858543-A-ACATCTTTAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20858546_20858554dup , CM000674.2:g.20858546_20858554dup | GRCh38 |
| NC_000012.11:g.21011480_21011488dup , CM000674.1:g.21011480_21011488dup | GRCh37 |
| NC_000012.10:g.20902747_20902755dup | NCBI36 |
| NG_032071.1:g.52843_52851dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381545.8:c.334_342dup (SLCO1B3) MANE Select | ENSP00000370956.4:p.Pro114_His115insSerLe... | |
| ENST00000261196.6:c.334_342dup (SLCO1B3) | ENSP00000261196.2:p.Pro114_His115insSerLe... | |
| ENST00000381541.7:c.334_342dup (SLCO1B3-SLCO1B7) | ENSP00000370952.3:p.Pro114_His115insSerLe... | |
| ENST00000381545.7:c.334_342dup (SLCO1B3) | ENSP00000370956.3:p.Pro114_His115insSerLe... | |
| ENST00000540229.1:c.334_342dup (SLCO1B3-SLCO1B7) | ENSP00000441269.1:p.Pro114_His115insSerLe... | |
| ENST00000540853.5:c.334_342dup (SLCO1B3) | ENSP00000442000.1:p.Pro114_His115insSerLe... | |
| ENST00000545880.1:n.186_194dup (SLCO1B3) | ||
| NM_019844.3:c.334_342dup (SLCO1B3) | NP_062818.1:p.Pro114_His115insSerLeuPro | |
| NM_001349920.1:c.250_258dup (SLCO1B3) | NP_001336849.1:p.Pro86_His87insSerLeuPro | |
| NM_001349920.2:c.250_258dup (SLCO1B3) | NP_001336849.1:p.Pro86_His87insSerLeuPro | |
| NM_001371097.1:c.334_342dup (SLCO1B3-SLCO1B7) | NP_001358026.1:p.Pro114_His115insSerLeuPr... | |
| NM_019844.4:c.334_342dup (SLCO1B3) MANE Select | NP_062818.1:p.Pro114_His115insSerLeuPro |