Original source

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

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

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

Most severe consequence
 
Missense variant
Evidence status

Synonyms

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