Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 8:100733201 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031146

Most severe consequence
Clinical significance

Synonyms

LSDB 15253

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

8:g.100733201C>T
ENST00000518569.1:n.106C>T
ENST00000358544.2:c.7051C>T
ENSP00000351346.2:p.Arg2351Ter
ENST00000395996.1:c.*2834C>T
ENST00000357162.2:c.6976C>T
ENSP00000349685.2:p.Arg2326Ter

Variation displays