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 17:39725721 (forward strand) | View in location tab

Co-located

with COSMIC COSM684 (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 22 HGVS names - click the plus to show

17:g.39725721G>A
ENST00000583038.5:n.4300G>A
ENST00000584450.5:c.2740G>A
ENSP00000463714.1:p.Glu914Lys
ENST00000541774.5:c.2695G>A
ENSP00000446466.1:p.Glu899Lys
ENST00000445658.6:c.1912G>A
ENSP00000404047.2:p.Glu638Lys
ENST00000269571.9:c.2740G>A
ENSP00000269571.4:p.Glu914Lys
ENST00000406381.6:c.2650G>A
ENSP00000385185.2:p.Glu884Lys
ENST00000578373.5:c.*2530G>A
ENST00000584601.5:c.2650G>A
ENSP00000462438.1:p.Glu884Lys
LRG_724:g.42582G>A
LRG_724t4:c.2695G>A
LRG_724p4:p.Glu899Lys
LRG_724t1:c.2650G>A
LRG_724p1:p.Glu884Lys
LRG_724t2:c.2740G>A
LRG_724p2:p.Glu914Lys

About this variant

This variant overlaps 22 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays