Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 11:46739324 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM060261

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4991

HGVS names

This variant has 8 HGVS names - Hide

11:g.46739324C>G
ENST00000530231.5:c.1668C>G
ENSP00000433907.1:p.Asp556Glu
ENST00000311907.9:c.1785C>G
ENSP00000308541.5:p.Asp595Glu
LRG_551:g.25132C>G
LRG_551t1:c.1785C>G
LRG_551p1:p.Asp595Glu

About this variant

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

Variant displays