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 2:178453570 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM062579

Most severe consequence
Clinical significance

Synonyms

LSDB 16688

This variation has 8 HGVS names - click the plus to show

2:g.178453570C>T
ENST00000442710.3:c.3C>T
ENSP00000410776.1:p.Thr2Ile
ENST00000375129.6:c.161C>T
ENSP00000364271.4:p.Thr54Ile
ENST00000409117.5:c.161C>T
ENSP00000386647.3:p.Thr54Ile
ENST00000437056.3:n.320C>T

Variation displays