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 6:121447133 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM042353

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 3 HGVS names - click the plus to show

6:g.121447133G>A
ENST00000282561.3:c.286G>A
ENSP00000282561.3:p.Val96Met

Genotyping chips

This variation has assays on: Illumina_Human610_Quad, Illumina_HumanOmni5, Illumina_1M-duo

Variation displays