Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V|MAF: < 0.01 (G)
Location

Chromosome 17:39723332 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 54 HGVS names - Hide

Variant allele C
17:g.39723332A>C
ENST00000583038.5:n.3094A>C
ENST00000580074.1:c.66A>C
ENSP00000463002.1:p.Ile23Leu
ENST00000584450.5:c.1960A>C
ENSP00000463714.1:p.Ile654Leu
ENST00000582818.5:c.278A>C
ENSP00000464252.1:p.Ile94Leu
ENST00000578630.1:n.569A>C
ENST00000541774.5:c.1915A>C
ENSP00000446466.1:p.Ile639Leu
ENST00000445658.6:c.1132A>C
ENSP00000404047.2:p.Ile378Leu
ENST00000269571.9:c.1960A>C
ENSP00000269571.4:p.Ile654Leu
ENST00000406381.6:c.1870A>C
ENSP00000385185.2:p.Ile624Leu
ENST00000578373.5:c.*1750A>C
ENST00000584601.5:c.1870A>C
ENSP00000462438.1:p.Ile624Leu
LRG_724:g.40193A>C
LRG_724t4:c.1915A>C
LRG_724p4:p.Ile639Leu
LRG_724t1:c.1870A>C
LRG_724p1:p.Ile624Leu
LRG_724t2:c.1960A>C
LRG_724p2:p.Ile654Leu

Variant allele G
17:g.39723332A>G
ENST00000583038.5:n.3094A>G
ENST00000580074.1:c.66A>G
ENSP00000463002.1:p.Ile23Val
ENST00000584450.5:c.1960A>G
ENSP00000463714.1:p.Ile654Val
ENST00000582818.5:c.278A>G
ENSP00000464252.1:p.Ile94Val
ENST00000578630.1:n.569A>G
ENST00000541774.5:c.1915A>G
ENSP00000446466.1:p.Ile639Val
ENST00000445658.6:c.1132A>G
ENSP00000404047.2:p.Ile378Val
ENST00000269571.9:c.1960A>G
ENSP00000269571.4:p.Ile654Val
ENST00000406381.6:c.1870A>G
ENSP00000385185.2:p.Ile624Val
ENST00000578373.5:c.*1750A>G
ENST00000584601.5:c.1870A>G
ENSP00000462438.1:p.Ile624Val
LRG_724:g.40193A>G
LRG_724t4:c.1915A>G
LRG_724p4:p.Ile639Val
LRG_724t1:c.1870A>G
LRG_724p1:p.Ile624Val
LRG_724t2:c.1960A>G
LRG_724p2:p.Ile654Val

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 32 transcripts, has 2506 sample genotypes, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays