Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 2:241810796 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930014

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12568, NM_000030.2:c.454T>A

This variation has 5 HGVS names - click the plus to show

2:g.241810796T>A
ENST00000476698.1:n.191T>A
ENST00000472436.1:n.474T>A
ENST00000307503.3:c.454T>A
ENSP00000302620.3:p.Phe152Ile

Variation displays