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 2:241814542 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970065

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12570, NM_000030.2:c.697C>T

This variation has 4 HGVS names - click the plus to show

2:g.241814542C>T
ENST00000476698.1:n.349C>T
ENST00000307503.3:c.697C>T
ENSP00000302620.3:p.Arg233Cys

Variation displays