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 8:100396522 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041271

Most severe consequence
Clinical significance

Synonyms

LSDB 15256

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

8:g.100396522C>T
ENST00000522802.1:n.133C>T
ENST00000395996.1:c.2911C>T
ENSP00000379318.1:p.Arg971Ter
ENST00000496144.1:c.2911C>T
ENSP00000430900.1:p.Arg971Ter
ENST00000358544.2:c.2911C>T
ENSP00000351346.2:p.Arg971Ter
ENST00000357162.2:c.2911C>T
ENSP00000349685.2:p.Arg971Ter

Variation displays