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 3:197951244 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS087979

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5289, NM_000996.2:c.97G>A

This variation has 17 HGVS names - click the plus to show

3:g.197951244G>A
ENST00000265239.7:c.-59-5558C>T
ENST00000439255.1:c.97G>A
ENSP00000410683.1:p.Val33Ile
ENST00000480302.2:n.313-5558C>T
ENST00000496582.2:n.158G>A
ENST00000464167.2:c.97G>A
ENSP00000419117.1:p.Val33Ile
ENST00000448864.2:c.97G>A
ENSP00000393393.1:p.Val33Ile
ENST00000485439.2:n.161G>A
ENST00000442341.2:c.97G>A
ENSP00000387688.1:p.Val33Ile
ENST00000329092.9:n.158G>A
ENST00000429437.2:c.97G>A
ENSP00000398058.1:p.Val33Ile
ENST00000416896.1:c.-49-7193C>T

Variation displays