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
Location

Chromosome 1:115033507 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM890112

Most severe consequence
Clinical significance

Synonyms

LSDB 5592

This variation has 5 HGVS names - click the plus to show

1:g.115033507G>A
ENST00000256592.2:c.145G>A
ENSP00000256592.1:p.Gly49Arg
ENST00000369517.1:c.145G>A
ENSP00000358530.1:p.Gly49Arg

Variation displays