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 | MAF: 0.01 (A)
Location

Chromosome 11:18269755 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910350

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 268

This variation has 7 HGVS names - click the plus to show

11:g.18269755G>A
ENST00000356524.6:c.269G>A
ENSP00000348918.4:p.Gly90Asp
ENST00000532858.3:c.269G>A
ENSP00000436866.1:p.Gly90Asp
ENST00000405158.2:c.269G>A
ENSP00000384906.2:p.Gly90Asp

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni2.5, Illumina_HumanOmni5

Variation displays