Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome 1:169552693 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032568

Most severe consequence
Clinical significance

Synonyms

LSDB 17296

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

1:g.169552693A>G
ENST00000367796.3:c.1160T>C
ENSP00000356770.3:p.Ile387Thr
ENST00000367797.4:c.1160T>C
ENSP00000356771.3:p.Ile387Thr

Variation displays