Original source

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

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

Chromosome 12:40299125 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043517

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

12:g.40299125A>G
ENST00000343742.4:c.3364A>G
ENSP00000341930.2:p.Ile1122Val
ENST00000479187.3:n.45A>G
ENST00000430804.3:c.408A>G
ENSP00000410821.1:p.Ile137Val
ENST00000298910.9:c.3364A>G
ENSP00000298910.7:p.Ile1122Val

Genotyping chips

This variation has assays on: Illumina_ImmunoChip

Variation displays