Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K | MAF: 0.37 (G)
Location

Chromosome 12:69202580 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR043384

Most severe consequence
Evidence status

This variation has 11 HGVS names - click the plus to show

12:g.69202580T>G
ENST00000540827.1:c.-5+309T>G
ENST00000393412.3:c.-5+309T>G
ENST00000258149.5:c.-5+309T>G
ENST00000258148.7:c.14+309T>G
ENST00000462284.1:c.14+309T>G
ENST00000311420.9:c.14+309T>G
ENST00000493419.1:n.210+309T>G
ENST00000356290.4:c.-5+309T>G
ENST00000393417.3:c.-5+309T>G
ENST00000428863.2:c.-5+309T>G

Genotyping chips

This variation has assays on: Illumina_HumanOmni1-Quad

Variation displays