Original source

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

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

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

Co-located

with COSMIC COSM1222834 (G/A) ; HGMD-PUBLIC CM981688

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15730

This variation has 6 HGVS names - click the plus to show

11:g.64751966G>A
ENST00000164139.3:c.1726C>T
ENSP00000164139.3:p.Arg576Ter
ENST00000462303.1:n.50C>T
ENST00000377432.6:c.1462C>T
ENSP00000366650.3:p.Arg488Ter

About this variant

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

Variation displays