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 8:99384294 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041271

Most severe consequence
Clinical significance

Synonyms

LSDB 15256

This variation has 8 HGVS names - click the plus to show

8:g.99384294C>T
ENST00000522802.2:n.133C>T
ENST00000496144.2:c.2911C>T
ENSP00000430900.1:p.Arg971Ter
ENST00000358544.3:c.2911C>T
ENSP00000351346.2:p.Arg971Ter
ENST00000357162.3:c.2911C>T
ENSP00000349685.2:p.Arg971Ter

Variation displays