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 1:173904044 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CD994760, CM880010

Most severe consequence
Clinical significance

Synonyms

LSDB 354

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

1:g.173904044C>T
ENST00000367698.3:c.1240G>A
ENSP00000356671.3:p.Ala414Thr
ENST00000617423.1:c.625G>A
ENSP00000478688.1:p.Ala209Thr

Variation displays