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 2:127428495 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951016

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 17283, PC-HY14

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

2:g.127428495C>T
ENST00000402125.2:c.259C>T
ENSP00000384225.2:p.Ser87Leu
ENST00000409048.1:c.1037C>T
ENSP00000386679.1:p.Ser346Leu
ENST00000234071.5:c.935C>T
ENSP00000234071.3:p.Ser312Leu

Variation displays