Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 12:52306272 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970852 ; PhenCode HIFD_KRT86:c.1239G>T (G/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 5 HGVS names - click the plus to show

12:g.52306272G>T
ENST00000423955.3:c.1239G>T
ENSP00000444533.1:p.Glu413Asp
ENST00000293525.5:c.1239G>T
ENSP00000293525.5:p.Glu413Asp

Variation displays