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 2:127428462 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910318

Most severe consequence
Clinical significance

Synonyms

LSDB 17263

This variation has 7 HGVS names - click the plus to show

2:g.127428462C>T
ENST00000402125.2:c.226C>T
ENSP00000384225.2:p.Ala76Val
ENST00000409048.1:c.1004C>T
ENSP00000386679.1:p.Ala335Val
ENST00000234071.5:c.902C>T
ENSP00000234071.3:p.Ala301Val

Variation displays