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 3:197954142 (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.197954142C>T
ENST00000474640.1:n.580C>T
ENST00000439255.1:c.*303C>T
ENST00000265239.8:c.-60+5387G>A
ENST00000480302.3:n.312+5387G>A
ENST00000448864.3:c.304C>T
ENSP00000393393.1:p.Arg102Ter
ENST00000464167.3:c.304C>T
ENSP00000419117.1:p.Arg102Ter
ENST00000485439.3:n.368C>T
ENST00000329092.10:n.451C>T
ENST00000429437.3:c.*153C>T
ENST00000416896.1:c.-50+5387G>A

Variation displays