Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 11:47442780 (forward strand)|View in location tab

Co-located variants

COSMIC COSM542642 ; HGMD-PUBLIC CM080516

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10274

HGVS names

This variant has 16 HGVS names - Hide

Variant allele A
11:g.47442780G>A
ENST00000352508.7:c.566C>T
ENSP00000298853.3:p.Ala189Val
ENST00000298854.6:c.566C>T
ENSP00000298854.2:p.Ala189Val
ENST00000529341.1:c.566C>T
ENSP00000431732.1:p.Ala189Val
ENST00000524487.5:c.532-859C>T

Variant allele C
11:g.47442780G>C
ENST00000352508.7:c.566C>G
ENSP00000298853.3:p.Ala189Gly
ENST00000298854.6:c.566C>G
ENSP00000298854.2:p.Ala189Gly
ENST00000529341.1:c.566C>G
ENSP00000431732.1:p.Ala189Gly
ENST00000524487.5:c.532-859C>G

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays