Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 1:53213264 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990441

Most severe consequence
Evidence status

Synonyms

Uniprot VAR_007971

This variation has 4 HGVS names - click the plus to show

Variation displays