Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 12:52700054 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970853 ; PhenCode HIFD_KRT86:c.1237G>A (G/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

12:g.52700054G>A
ENST00000423955.2:c.1237G>A
ENSP00000444533.1:p.Glu413Lys
ENST00000293525.5:c.1237G>A
ENSP00000293525.5:p.Glu413Lys
ENST00000544024.1:c.1237G>A
ENSP00000443169.1:p.Glu413Lys

Variation displays