Original source

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

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

Chromosome 12:21654653 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930469

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 3772

HGVS names

This variant has 12 HGVS names - Hide

12:g.21654653T>C
ENST00000396076.5:c.19A>G
ENSP00000379386.1:p.Lys7Glu
ENST00000450584.5:c.19A>G
ENSP00000398015.1:p.Lys7Glu
ENST00000544151.1:n.246A>G
ENST00000350669.5:c.19A>G
ENSP00000229319.1:p.Lys7Glu
ENST00000396075.5:c.19A>G
ENSP00000379385.1:p.Lys7Glu
ENST00000539782.1:c.19A>G
ENSP00000442680.1:p.Lys7Glu

About this variant

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

Variant displays