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 | MAF: < 0.01 (A)
Location

Chromosome 12:40340400 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050659

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.40340400G>A
ENST00000479187.3:n.2736G>A
ENST00000430804.3:c.*2728G>A
ENST00000298910.9:c.6055G>A
ENSP00000298910.7:p.Gly2019Ser

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_ImmunoChip

Variation displays