Linked Data
dbSNP Id:
rs760959339
gnomAD v2:
12-21045757-CTG-C
gnomAD v3:
12-20892823-CTG-C
gnomAD v4:
12-20892823-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20892826_20892827del , CM000674.2:g.20892826_20892827del | GRCh38 |
| NC_000012.11:g.21045760_21045761del , CM000674.1:g.21045760_21045761del | GRCh37 |
| NC_000012.10:g.20937027_20937028del | NCBI36 |
| NG_032071.1:g.87123_87124del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381545.8:c.1683-5610_1683-5609del (SLCO1B3) MANE Select | ENSP00000370956.4:n.1683-5610_1683-5609de... | |
| ENST00000261196.6:c.1683-5610_1683-5609del (SLCO1B3) | ENSP00000261196.2:n.1683-5610_1683-5609de... | |
| ENST00000381541.7:c.359+34255_359+34256del (SLCO1B3-SLCO1B7) | ENSP00000370952.3:n.359+34255_359+34256de... | |
| ENST00000381545.7:c.1683-5610_1683-5609del (SLCO1B3) | ENSP00000370956.3:n.1683-5610_1683-5609de... | |
| ENST00000540229.1:c.1683-5610_1683-5609del (SLCO1B3-SLCO1B7) | ENSP00000441269.1:n.1683-5610_1683-5609de... | |
| ENST00000544370.1:c.1155-5610_1155-5609del (SLCO1B3) | ENSP00000443225.1:n.1155-5610_1155-5609de... | |
| NM_019844.3:c.1683-5610_1683-5609del (SLCO1B3) | NP_062818.1:n.1683-5610_1683-5609del | |
| NM_001349920.1:c.1599-5610_1599-5609del (SLCO1B3) | NP_001336849.1:n.1599-5610_1599-5609del | |
| NM_001349920.2:c.1599-5610_1599-5609del (SLCO1B3) | NP_001336849.1:n.1599-5610_1599-5609del | |
| NM_001371097.1:c.1683-5610_1683-5609del (SLCO1B3-SLCO1B7) | NP_001358026.1:n.1683-5610_1683-5609del | |
| NM_019844.4:c.1683-5610_1683-5609del (SLCO1B3) MANE Select | NP_062818.1:n.1683-5610_1683-5609del |