Original source

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

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

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

Co-located

with 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
ENST00000253801.4:c.370G>A
ENSP00000253801.1:p.Ala124Thr
ENST00000592383.3:c.341-48G>A
LRG_147:g.11755G>A
LRG_147t1.1:c.370G>A
LRG_147p1.1:p.Ala124Thr

Variation displays