Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 12:52447788 (forward strand) | View in location tab

Co-located

with COSMIC COSM3398826 (C/T) ; HGMD-PUBLIC CM981147 ; PhenCode HIFD_KRT6B:c.1414G>A (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 3 HGVS names - click the plus to show

12:g.52447788C>T
ENST00000252252.3:c.1414G>A
ENSP00000252252.3:p.Glu472Lys

Variation displays