Original source

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

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

Chromosome 11:46726761 (forward strand)|View in location tab

Co-located variants

COSMIC COSM239762 ; HGMD-PUBLIC CM000011

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4989

HGVS names

This variant has 8 HGVS names - Hide

11:g.46726761G>A
ENST00000530231.5:c.1054G>A
ENSP00000433907.1:p.Glu352Lys
ENST00000311907.9:c.1054G>A
ENSP00000308541.5:p.Glu352Lys
LRG_551:g.12569G>A
LRG_551t1:c.1054G>A
LRG_551p1:p.Glu352Lys

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays