Table 4.
Ambiguities using HGVS nomenclature arising from overlapping genes and different sources, by the example of variant rs121913529
| Ensembl HGVS | dbSNP HGVS | Associated |
|---|---|---|
| gene | ||
| NC_000012.11:g.25398284C>G | KRAS | |
| ENST00000256078.4:c.35G >C | NM_033360.3:c.35G >C | KRAS-004 |
| ENSP00000256078.4:p.Gly12Ala | NP_203524.1:p.Gly12Ala | KRAS-004 |
| ENST00000311936.3:c.35G >C | NM_004985.4:c.35G >C | KRAS-001 |
| ENSP00000308495.3:p.Gly12Ala | NP_004976.2:p.Gly12Ala | KRAS-001 |
| ENST00000556131.1:c.35G >C | KRAS-002 | |
| ENSP00000451856.1:p.Gly12Ala | KRAS-002 | |
| ENST00000557334.1:c.35G >C | KRAS-003 | |
| ENSP00000452512.1:p.Gly12Ala | KRAS-003 |