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 11:44114237 (forward strand)|View in location tab

Co-located variants

COSMIC COSM926970, COSM926969 ; HGMD-PUBLIC CM970453

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15578

HGVS names

This variant has 15 HGVS names - Hide

11:g.44114237G>A
ENST00000358681.8:c.679G>A
ENSP00000351509.4:p.Asp227Asn
ENST00000533608.5:c.679G>A
ENSP00000431173.1:p.Asp227Asn
ENST00000529186.1:n.377G>A
ENST00000395673.7:c.778G>A
ENSP00000379032.3:p.Asp260Asn
ENST00000343631.3:c.679G>A
ENSP00000342656.3:p.Asp227Asn
LRG_494:g.23689G>A
LRG_494t2:c.679G>A
LRG_494p2:p.Asp227Asn
LRG_494t1:c.778G>A
LRG_494p1:p.Asp260Asn

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays