Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S | MAF: < 0.01 (G)
Location

Chromosome 1:169524537 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980658

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

1:g.169524537C>G
ENST00000367796.3:c.1001G>C
ENSP00000356770.3:p.Arg334Thr
ENST00000546081.1:c.590G>C
ENSP00000439664.1:p.Arg197Thr
ENST00000367797.3:c.1001G>C
ENSP00000356771.3:p.Arg334Thr

Variation displays