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 1:45481061 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981993

Most severe consequence
Clinical significance

Synonyms

LSDB 4809

This variation has 7 HGVS names - click the plus to show

1:g.45481061G>A
ENST00000472254.1:n.748G>A
ENST00000466193.1:n.521G>A
ENST00000465678.1:n.740G>A
ENST00000494399.1:n.1662G>A
ENST00000246337.4:c.995G>A
ENSP00000246337.4:p.Arg332His

Variation displays