Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 12:21642032 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM900151, CM990786

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 3770

HGVS names

This variant has 7 HGVS names - Hide

12:g.21642032C>T
ENST00000396076.5:c.515G>A
ENSP00000379386.1:p.Arg172His
ENST00000350669.5:c.515G>A
ENSP00000229319.1:p.Arg172His
ENST00000396075.5:c.515G>A
ENSP00000379385.1:p.Arg172His

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays