Original source

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

C/G/T | Ancestral: C | Ambiguity code: B

Chromosome 1:16990213 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_058460

HGVS names

This variant has 22 HGVS names - Show

About this variant

This variant overlaps 14 transcripts and is mentioned in 1 citation.

Variant displays