Original source

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

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

Chromosome 12:52709720 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050656 ; PhenCode HIFD_KRT83:c.1219G>A (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11443, KRT83:c.1219G>A

This variation has 4 HGVS names - click the plus to show

12:g.52709720C>T
ENST00000293670.3:c.1219G>A
ENSP00000293670.3:p.Glu407Lys
ENST00000594763.1:c.57-52C>T

Variation displays