Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 11:46749707 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920247

Most severe consequence
Clinical significance

Synonyms

LSDB 4985

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

11:g.46749707G>A
ENST00000530231.1:c.1292G>A
ENSP00000433907.1:p.Arg431His
ENST00000311907.5:c.1292G>A
ENSP00000308541.5:p.Arg431His

Variation displays