Original source

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

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

Chromosome 1:97079133 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM952133

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 17483

This variation has 6 HGVS names - click the plus to show

1:g.97079133T>A
ENST00000370192.5:c.2921A>T
ENSP00000359211.3:p.Asp974Val
LRG_722:g.846927A>T
LRG_722t1:c.2921A>T
LRG_722p1:p.Asp974Val

Variation displays