Original source

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

Alleles
G/A/C | Ancestral: G | Ambiguity code: V
Location

Chromosome 12:52306237 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM993348, CM990785 ; ESP rs28939669 (G/A) ; PhenCode HIFD_KRT86:c.1204G>A (G/A), HIFD_KRT86:c.1204G>C (G/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 10 HGVS names - click the plus to show

Variant allele A
12:g.52306237G>A
ENST00000293525.5:c.1204G>A
ENSP00000293525.5:p.Glu402Lys
ENST00000423955.3:c.1204G>A
ENSP00000444533.1:p.Glu402Lys

Variant allele C
12:g.52306237G>C
ENST00000293525.5:c.1204G>C
ENSP00000293525.5:p.Glu402Gln
ENST00000423955.3:c.1204G>C
ENSP00000444533.1:p.Glu402Gln

Variation displays