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 3:197681013 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM087977

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_000996.2:c.304C>T, 5291

This variation has 13 HGVS names - click the plus to show

3:g.197681013C>T
ENST00000474640.1:n.580C>T
ENST00000439255.1:c.*303C>T
ENST00000265239.6:c.-60+5387G>A
ENST00000480302.1:n.312+5387G>A
ENST00000464167.1:c.304C>T
ENSP00000419117.1:p.Arg102Ter
ENST00000448864.1:c.304C>T
ENSP00000393393.1:p.Arg102Ter
ENST00000485439.1:n.368C>T
ENST00000329092.8:n.451C>T
ENST00000429437.1:c.*153C>T
ENST00000416896.1:c.-50+5387G>A

Variation displays