Linked Data
dbSNP Id:
rs761200804
ExAC:
12:21015685 T / TA
gnomAD v2:
12-21015685-T-TA
gnomAD v3:
12-20862751-T-TA
gnomAD v4:
12-20862751-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20862752dup , CM000674.2:g.20862752dup | GRCh38 |
| NC_000012.11:g.21015686dup , CM000674.1:g.21015686dup | GRCh37 |
| NC_000012.10:g.20906953dup | NCBI36 |
| NG_032071.1:g.57049dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381545.8:c.629-4dup (SLCO1B3) MANE Select | ENSP00000370956.4:n.629-4dup | |
| ENST00000261196.6:c.629-4dup (SLCO1B3) | ENSP00000261196.2:n.629-4dup | |
| ENST00000381541.7:c.359+4181dup (SLCO1B3-SLCO1B7) | ENSP00000370952.3:n.359+4181dup | |
| ENST00000381545.7:c.629-4dup (SLCO1B3) | ENSP00000370956.3:n.629-4dup | |
| ENST00000540229.1:c.629-4dup (SLCO1B3-SLCO1B7) | ENSP00000441269.1:n.629-4dup | |
| ENST00000540853.5:c.629-4dup (SLCO1B3) | ENSP00000442000.1:n.629-4dup | |
| ENST00000544370.1:c.101-4dup (SLCO1B3) | ENSP00000443225.1:n.101-4dup | |
| NM_019844.3:c.629-4dup (SLCO1B3) | NP_062818.1:n.629-4dup | |
| NM_001349920.1:c.545-4dup (SLCO1B3) | NP_001336849.1:n.545-4dup | |
| NM_001349920.2:c.545-4dup (SLCO1B3) | NP_001336849.1:n.545-4dup | |
| NM_001371097.1:c.629-4dup (SLCO1B3-SLCO1B7) | NP_001358026.1:n.629-4dup | |
| NM_019844.4:c.629-4dup (SLCO1B3) MANE Select | NP_062818.1:n.629-4dup |