Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 1:16351268 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM045636

Most severe consequence
Clinical significance

Synonyms

LSDB 10725

This variation has 10 HGVS names - click the plus to show

1:g.16351268G>C
ENST00000464764.1:n.889-86G>C
ENST00000495784.1:n.398G>C
ENST00000331433.4:c.240G>C
ENSP00000332771.4:p.Trp80Cys
ENST00000420078.1:c.240G>C
ENSP00000410353.1:p.Trp80Cys
ENST00000439316.2:c.229+845G>C
ENST00000375692.1:c.240G>C
ENSP00000364844.1:p.Trp80Cys

Variation displays