Original source

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

Alleles
G/A/C | Ancestral: G | Ambiguity code: V | MAF: 0.01 (C)
Location

Chromosome 12:40320043 (forward strand) | View in location tab

Co-located

with COSMIC COSM1361432 (G/A), COSM1361433 (G/A) ; HGMD-PUBLIC CM084928

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

Variant allele A
12:g.40320043G>A
ENST00000479187.2:n.1564G>A
ENST00000481256.1:n.542G>A
ENST00000430804.2:c.*1556G>A
ENST00000298910.8:c.4883G>A
ENSP00000298910.7:p.Arg1628His

Variant allele C
12:g.40320043G>C
ENST00000479187.2:n.1564G>C
ENST00000481256.1:n.542G>C
ENST00000430804.2:c.*1556G>C
ENST00000298910.8:c.4883G>C
ENSP00000298910.7:p.Arg1628Pro

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_ImmunoChip

Variation displays