Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 2:240875159 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970066

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12569, NM_000030.2:c.731T>C

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

2:g.240875159T>C
ENST00000476698.1:n.383T>C
ENST00000307503.3:c.731T>C
ENSP00000302620.3:p.Ile244Thr

Variation displays