Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 17:42907552 (forward strand) | View in location tab

Co-located

with COSMIC COSM3189768 (G/A) ; HGMD-PUBLIC CM960670

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6323, 2010_April_001_056_G6PC_232200_0010

This variation has 9 HGVS names - click the plus to show

17:g.42907552G>A
ENST00000585489.1:c.370G>A
ENSP00000466202.1:p.Ala124Thr
ENST00000592383.4:c.341-48G>A
ENST00000253801.5:c.370G>A
ENSP00000253801.1:p.Ala124Thr
LRG_147:g.11755G>A
LRG_147t1:c.370G>A
LRG_147p1:p.Ala124Thr

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variation displays