Original source

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

Alleles
A/C/T | Ancestral: A | Ambiguity code: H
Location

Chromosome 12:52679885 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014939, CM940999 ; PhenCode HIFD_KRT1:c.464T>G (A/C), HIFD_KRT1:c.464T>A (A/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 6 HGVS names - click the plus to show

Variant allele T
12:g.52679885A>T
ENST00000252244.3:c.464T>A
ENSP00000252244.3:p.Val155Asp

Variant allele C
12:g.52679885A>C
ENST00000252244.3:c.464T>G
ENSP00000252244.3:p.Val155Gly

Variation displays