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 1:169542689 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012100

Most severe consequence
Clinical significance

Synonyms

LSDB 17291

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

1:g.169542689G>A
ENST00000367796.3:c.2416C>T
ENSP00000356770.3:p.Gln806Ter
ENST00000367797.5:c.2401C>T
ENSP00000356771.3:p.Gln801Ter

Variation displays