Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 12:40340404 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043520

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.40340404T>C
ENST00000479187.3:n.2740T>C
ENST00000430804.3:c.*2732T>C
ENST00000298910.9:c.6059T>C
ENSP00000298910.7:p.Ile2020Thr

Genotyping chips

This variation has assays on: Illumina_ImmunoChip

Variation displays