Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 17:42900989 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM960667

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_053_G6PC_232200_0006, 6319

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

17:g.42900989A>T
ENST00000585489.1:c.113A>T
ENSP00000466202.1:p.Asp38Val
ENST00000588481.1:n.178A>T
ENST00000592383.3:c.113A>T
ENSP00000465958.1:p.Asp38Val
ENST00000253801.4:c.113A>T
ENSP00000253801.1:p.Asp38Val
LRG_147:g.5192A>T
LRG_147t1:c.113A>T
LRG_147p1:p.Asp38Val

Variation displays