Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 12:52696053 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001206 ; PhenCode HIFD_KRT86:c.353C>A (C/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

12:g.52696053C>A
ENST00000423955.2:c.353C>A
ENSP00000444533.1:p.Ala118Glu
ENST00000293525.5:c.353C>A
ENSP00000293525.5:p.Ala118Glu
ENST00000544024.1:c.353C>A
ENSP00000443169.1:p.Ala118Glu
ENST00000553310.2:c.353C>A
ENSP00000452237.3:p.Ala118Glu

Variation displays