Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 1:173879987 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002218

Most severe consequence
Clinical significance

Synonyms

LSDB 379

This variation has 4 HGVS names - click the plus to show

1:g.173879987A>G
ENST00000487183.1:n.330-12T>C
ENST00000367698.3:c.667T>C
ENSP00000356671.3:p.Ser223Pro

Variation displays