Original source

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

Alleles
C/T | Ambiguity code: Y
Location

Chromosome 12:52287112 (forward strand) | View in location tab

Co-located

with COSMIC COSM162065 (C/T) ; HGMD-PUBLIC CM970851 ; PhenCode HIFD_KRT81:c.1237G>A (C/T)

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.52287112C>T
ENST00000423955.4:c.-5+11166C>T
ENST00000615839.1:c.1237G>A
ENSP00000483796.1:p.Glu413Lys
ENST00000553310.4:c.-4-14801C>T
ENST00000327741.7:c.1237G>A
ENSP00000369349.4:p.Glu413Lys

Variation displays