Original source

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

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

Chromosome 12:53070098 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990773 ; PhenCode HIFD_KRT1:c.1436T>C (A/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 4 HGVS names - click the plus to show

12:g.53070098A>G
ENST00000252244.3:c.1436T>C
ENSP00000252244.3:p.Ile479Thr
ENST00000548765.1:n.510T>C

Variation displays