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 1:173904013 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910059

Most severe consequence
Clinical significance

Synonyms

LSDB 369

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

1:g.173904013C>T
ENST00000367698.3:c.1271G>A
ENSP00000356671.3:p.Gly424Asp
ENST00000617423.2:c.656G>A
ENSP00000478688.1:p.Gly219Asp

Variation displays