Original source

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

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

Chromosome 11:17394334 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981887

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

11:g.17394334G>A
ENST00000389817.5:c.4477C>T
ENSP00000374467.3:p.Arg1493Trp
ENST00000526037.3:n.237C>T
ENST00000525022.1:n.372C>T
ENST00000531642.3:c.*321C>T
ENST00000526168.3:c.*164C>T
ENST00000302539.6:c.4480C>T
ENSP00000303960.4:p.Arg1494Trp

Genotyping chips

This variation has assays on: Illumina_HumanOmni1-Quad, HumanCoreExome-12, Illumina_Human1M-duo

Variation displays