Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome 1:45014996 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961407

Most severe consequence
Clinical significance

Synonyms

LSDB 4804

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

1:g.45014996A>G
ENST00000472254.1:n.685A>G
ENST00000466193.1:n.458A>G
ENST00000465678.1:n.347A>G
ENST00000494399.2:n.1599A>G
ENST00000246337.5:c.932A>G
ENSP00000246337.4:p.Tyr311Cys

Variation displays