Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 11:46739341 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM003674

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4983

This variant has 5 HGVS names - click the plus to show

11:g.46739341G>T
ENST00000530231.5:c.1685G>T
ENSP00000433907.1:p.Gly562Val
ENST00000311907.9:c.1802G>T
ENSP00000308541.5:p.Gly601Val

About this variant

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

Variant displays