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 12:53185000 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970845 ; PhenCode HIFD_KRT3:c.1525G>A (C/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.53185000C>T
ENST00000309505.3:c.1525G>A
ENSP00000312206.3:p.Glu509Lys
ENST00000417996.2:c.1525G>A
ENSP00000413479.2:p.Glu509Lys

Variation displays