Original source

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

Alleles
C/T | Ancestral: T | Ambiguity code: Y | MAF: 0.41 (C)
Location

Chromosome 7:128954671 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR068449

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs10373278, rs56657495

This variation has 3 HGVS names - click the plus to show

7:g.128954671C>T
ENST00000627585.1:c.*746G>A
ENST00000265388.8:c.*746G>A

This variation has assays on 6 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts, has 2366 individual genotypes and is mentioned in 43 citations.

Variation displays