Table 1:
Examples of local code mapping to standardized codable concepts.
| Local Code | Human Gene Naming Consortium ID | National Cancer Institute Thesaurus | Consensus Coding Sequence | Human Genome Variant Society | Display Name | Gene Wiki URL (http://en.wikipedia.org/wiki/∼) |
|---|---|---|---|---|---|---|
| BV600 | HGNC:1097 | C18363 | 5863.1 | c.1799_1800TG>AA | BRAF V600E | ∼BRAF_(gene) |
| p.V600E | ||||||
| E790M | HGNC:3236 | C17757 | 5514.1 | c.2369C>T | EGFR T790M | ∼Epidermal_growth_factor_receptor |
| p.T790M | ||||||
| G12CM | HGNC:6407 | C25785 | 8702.1 | c.34G>T | KRAS G12C | ∼KRAS |
| p.G12C | ||||||
| G13CM | HGNC:6407 | C25785 | 8702.1 | c.37G>T | KRAS G13C | ∼KRAS |
| p.G13C |