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 2:127427219 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910316

Most severe consequence
Clinical significance

Synonyms

LSDB 17278

This variation has 6 HGVS names - click the plus to show

2:g.127427219C>T
ENST00000402125.2:c.121-1138C>T
ENST00000409048.1:c.895C>T
ENSP00000386679.1:p.Leu299Phe
ENST00000234071.5:c.793C>T
ENSP00000234071.3:p.Leu265Phe

Variation displays