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 1:173903978 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM890020

Most severe consequence
Clinical significance

Synonyms

LSDB 333

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

1:g.173903978C>T
ENST00000367698.3:c.1306G>A
ENSP00000356671.3:p.Ala436Thr
ENST00000617423.1:c.691G>A
ENSP00000478688.1:p.Ala231Thr

Variation displays