Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 3:181712749 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CX064765

Most severe consequence
Clinical significance

Synonyms

LSDB 5470

This variation has 23 HGVS names - click the plus to show

3:g.181712749G>C
ENST00000498731.3:n.564-2436G>C
ENST00000593549.3:n.290-2436G>C
ENST00000595287.1:n.286+12866G>C
ENST00000597828.3:n.638-2436G>C
ENST00000493521.3:n.782+12866G>C
ENST00000593330.1:n.44+12866G>C
ENST00000477928.1:n.391+12866G>C
ENST00000600778.1:n.285+12866G>C
ENST00000596250.3:n.289+12866G>C
ENST00000600386.3:n.290-2436G>C
ENST00000598474.1:n.289+12866G>C
ENST00000492337.3:n.739-2436G>C
ENST00000476964.3:n.482-26820G>C
ENST00000466034.3:n.389-2436G>C
ENST00000491282.3:n.577+12866G>C
ENST00000498226.3:n.287-77924G>C
ENST00000599082.1:n.50+13105G>C
ENST00000469278.3:n.473-26820G>C
ENST00000325404.2:c.389G>C
ENSP00000323588.1:p.Gly130Ala
ENST00000600801.3:n.290-2436G>C
ENST00000597651.3:n.289+12866G>C

Variation displays