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 1:169521931 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032568

Most severe consequence
Clinical significance

Synonyms

LSDB 17296

This variation has 7 HGVS names - click the plus to show

1:g.169521931A>G
ENST00000367796.3:c.1160T>C
ENSP00000356770.3:p.Ile387Thr
ENST00000546081.1:c.749T>C
ENSP00000439664.1:p.Ile250Thr
ENST00000367797.3:c.1160T>C
ENSP00000356771.3:p.Ile387Thr

Variation displays