Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: 0.25 (A)
Location

Chromosome 1:46405089 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM023913

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

1:g.46405089C>A
ENST00000468718.2:n.405C>A
ENST00000493735.2:n.363C>A
ENST00000243167.8:c.385C>A
ENSP00000243167.8:p.Pro129Thr

This variation has assays on 10 chips - click the plus to show

Variation displays