Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/C | Ancestral: G | Ambiguity code: S

Chromosome 2:219421380 (forward strand) | View in location tab


with COSMIC COSM1016736 (G/A) ; HGMD-PUBLIC CM052845 ; PhenCode HIFD_DES:c.1064G>C (G/C)

Most severe consequence
Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

Variation displays