Original source

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

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

Chromosome 8:99720973 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031146

Most severe consequence
Clinical significance

Synonyms

LSDB 15253

This variation has 6 HGVS names - click the plus to show

8:g.99720973C>T
ENST00000518569.1:n.106C>T
ENST00000358544.4:c.7051C>T
ENSP00000351346.2:p.Arg2351Ter
ENST00000357162.4:c.6976C>T
ENSP00000349685.2:p.Arg2326Ter

Variation displays