Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

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

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 20 HGVS names - click the plus to show

17:g.39723332A>G
ENST00000578630.1:n.569A>G
ENST00000582818.2:c.278A>G
ENSP00000464252.1:p.Ile94Val
ENST00000583038.2:n.3094A>G
ENST00000541774.2:c.1915A>G
ENSP00000446466.1:p.Ile639Val
ENST00000580074.1:c.66A>G
ENSP00000463002.1:p.Ile23Val
ENST00000445658.3:c.1132A>G
ENSP00000404047.2:p.Ile378Val
ENST00000269571.6:c.1960A>G
ENSP00000269571.4:p.Ile654Val
ENST00000406381.3:c.1870A>G
ENSP00000385185.2:p.Ile624Val
ENST00000578373.2:c.*1750A>G
ENST00000584450.2:c.1960A>G
ENSP00000463714.1:p.Ile654Val
ENST00000584601.2:c.1870A>G
ENSP00000462438.1:p.Ile624Val

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_ImmunoChip, Illumina_HumanOmni5

Variation displays