Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 1:45014976 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981992

Most severe consequence
Clinical significance

Synonyms

LSDB 4808

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

1:g.45014976C>A
ENST00000472254.1:n.665C>A
ENST00000466193.1:n.438C>A
ENST00000465678.1:n.327C>A
ENST00000494399.2:n.1579C>A
ENST00000246337.5:c.912C>A
ENSP00000246337.4:p.Asn304Lys

Variation displays