Original source

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

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

Chromosome 17:39725125 (forward strand) | View in location tab

Co-located

with COSMIC COSM686 (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

17:g.39725125A>G
ENST00000583038.5:n.3704A>G
ENST00000580074.1:c.676A>G
ENSP00000463002.1:p.Asn226Ser
ENST00000584450.5:c.2570A>G
ENSP00000463714.1:p.Asn857Ser
ENST00000541774.5:c.2525A>G
ENSP00000446466.1:p.Asn842Ser
ENST00000445658.6:c.1742A>G
ENSP00000404047.2:p.Asn581Ser
ENST00000269571.9:c.2570A>G
ENSP00000269571.4:p.Asn857Ser
ENST00000406381.6:c.2480A>G
ENSP00000385185.2:p.Asn827Ser
ENST00000578373.5:c.*2360A>G
ENST00000584601.5:c.2480A>G
ENSP00000462438.1:p.Asn827Ser
LRG_724:g.41986A>G
LRG_724t4:c.2525A>G
LRG_724p4:p.Asn842Ser
LRG_724t1:c.2480A>G
LRG_724p1:p.Asn827Ser
LRG_724t2:c.2570A>G
LRG_724p2:p.Asn857Ser

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_ImmunoChip, Illumina_HumanOmni5

About this variant

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

Variant displays