Original source

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

Alleles
G/A/T | Ancestral: G | Ambiguity code: D
Location

Chromosome 1:45014803 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM890114, CM860017

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4799, 4798

This variant has 24 HGVS names - click the plus to show

Variant allele A
1:g.45014803G>A
ENST00000472254.1:n.595G>A
ENST00000466193.1:n.265G>A
ENST00000465678.1:n.257G>A
ENST00000428106.1:c.660G>A
ENSP00000400253.1:p.Gly221Glu
ENST00000469548.5:n.1038G>A
ENST00000494399.5:n.1509G>A
ENST00000478467.5:n.845G>A
ENST00000486699.5:n.962G>A
ENST00000246337.8:c.842G>A
ENSP00000246337.4:p.Gly281Glu

Variant allele T
1:g.45014803G>T
ENST00000472254.1:n.595G>T
ENST00000466193.1:n.265G>T
ENST00000465678.1:n.257G>T
ENST00000428106.1:c.660G>T
ENSP00000400253.1:p.Gly221Val
ENST00000469548.5:n.1038G>T
ENST00000494399.5:n.1509G>T
ENST00000478467.5:n.845G>T
ENST00000486699.5:n.962G>T
ENST00000246337.8:c.842G>T
ENSP00000246337.4:p.Gly281Val

About this variant

This variant overlaps 44 transcripts, 2 regulatory features and is associated with 5 phenotypes.

Variant displays