Original source

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

G/C/T | Ancestral: G | Ambiguity code: B | MAF: < 0.01 (C)

Chromosome 2:48963249 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_013904

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 8 transcripts and has 2774 sample genotypes.

Variant displays