Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: 0.19 (G)
Location

Chromosome 1:55532742 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR065654

Most severe consequence
Evidence status

Synonyms

This variation has 3 HGVS names - click the plus to show

1:g.55532742G>C
ENST00000294383.6:c.*1976C>G
ENST00000407756.1:c.*1976C>G

This variation has assays on 4 chips - click the plus to show

Variation displays