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 11:46728139 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002958

Most severe consequence
Clinical significance

Synonyms

LSDB 4990

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

11:g.46728139G>A
ENST00000530231.3:c.1274G>A
ENSP00000433907.1:p.Arg425His
ENST00000311907.7:c.1274G>A
ENSP00000308541.5:p.Arg425His

Variation displays