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 | MAF: 0.05 (C)
Location

Chromosome 7:128948946 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

This variation has 6 HGVS names - click the plus to show

7:g.128948946T>C
ENST00000619830.1:c.*1123T>C
ENST00000249375.5:c.*128T>C
ENST00000465603.2:c.*1153T>C
ENST00000402030.3:c.*128T>C
ENST00000473745.2:c.*128T>C

Genotyping chips

This variation has assays on: Illumina_ImmunoChip, Illumina_HumanOmni5

Variation displays