Original source

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

A/C | Ancestral: A | Ambiguity code: M

Chromosome 1:16993645 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_058457

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 12 transcripts and is mentioned in 1 citation.

Variant displays