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 11:64751966 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1222834 ; HGMD-PUBLIC CM981688

Most severe consequence
 
Stop gained
Evidence status

Synonyms

LSDB 15730

HGVS names

This variant has 6 HGVS names - Hide

11:g.64751966G>A
ENST00000164139.3:c.1726C>T
ENSP00000164139.3:p.Arg576Ter
ENST00000462303.1:n.50C>T
ENST00000377432.7:c.1462C>T
ENSP00000366650.3:p.Arg488Ter

About this variant

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

Variant displays