Original source

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

Alleles
G/T | Ancestral: T | Ambiguity code: K | MAF: 0.40 (T)
Location

Chromosome 7:128578301 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS050392

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs2402939

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

7:g.128578301G>T
ENST00000489702.1:c.-12+413G>T
ENST00000479582.1:c.-125+198G>T
ENST00000488569.1:n.113+198G>T
ENST00000249375.4:c.-12+2G>T
ENST00000473787.1:c.-12+198G>T
ENST00000461416.1:n.69+198G>T
ENST00000357234.5:c.-12+198G>T
ENST00000464557.1:c.-158+198G>T
ENST00000402030.2:c.-12+198G>T
ENST00000477535.1:c.-12+198G>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays