Original source

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

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

Chromosome 12:40310435 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053302

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

12:g.40310435G>A
ENST00000479187.2:n.1003G>A
ENST00000298910.8:c.4322G>A
ENSP00000298910.7:p.Arg1441His
ENST00000430804.2:c.*995G>A

Genotyping chips

This variation has assays on: Illumina_HumanOmni1-Quad, Illumina_ImmunoChip

Variation displays