Original source

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

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

Chromosome 17:39471420 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_041968

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 8 transcripts and has 2504 sample genotypes.

Variant displays