Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 12:52676305 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM941003 ; PhenCode HIFD_KRT1:c.1445A>G (T/C)

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.52676305T>C
ENST00000252244.3:c.1445A>G
ENSP00000252244.3:p.Tyr482Cys
ENST00000548765.1:n.519A>G

Variation displays