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 17:39724744 (forward strand)|View in location tab

Co-located variants
Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 24 HGVS names - Hide

17:g.39724744G>A
ENST00000583038.5:n.3460G>A
ENST00000580074.1:c.432G>A
ENSP00000463002.1:p.Gly145Ser
ENST00000584450.5:c.2326G>A
ENSP00000463714.1:p.Gly776Ser
ENST00000541774.5:c.2281G>A
ENSP00000446466.1:p.Gly761Ser
ENST00000445658.6:c.1498G>A
ENSP00000404047.2:p.Gly500Ser
ENST00000269571.9:c.2326G>A
ENSP00000269571.4:p.Gly776Ser
ENST00000406381.6:c.2236G>A
ENSP00000385185.2:p.Gly746Ser
ENST00000578373.5:c.*2116G>A
ENST00000584601.5:c.2236G>A
ENSP00000462438.1:p.Gly746Ser
LRG_724:g.41605G>A
LRG_724t4:c.2281G>A
LRG_724p4:p.Gly761Ser
LRG_724t1:c.2236G>A
LRG_724p1:p.Gly746Ser
LRG_724t2:c.2326G>A
LRG_724p2:p.Gly776Ser

About this variant

This variant overlaps 23 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays