Original source

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

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

Chromosome 12:21794966 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM900151, CM990786

Most severe consequence
Clinical significance

Synonyms

LSDB 3770

This variation has 7 HGVS names - click the plus to show

12:g.21794966C>T
ENST00000396076.1:c.515G>A
ENSP00000379386.1:p.Arg172His
ENST00000350669.1:c.515G>A
ENSP00000229319.1:p.Arg172His
ENST00000396075.1:c.515G>A
ENSP00000379385.1:p.Arg172His

Variation displays