Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 5:131719847 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992435

Most severe consequence
Clinical significance

Synonyms

LSDB 11842

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

5:g.131719847G>A
ENST00000245407.3:c.506G>A
ENSP00000245407.3:p.Arg169Gln
ENST00000437841.2:c.394-1173G>A
ENST00000435065.2:c.578G>A
ENSP00000402760.2:p.Arg193Gln
ENST00000461013.1:n.7928G>A
ENST00000415928.1:c.275G>A
ENSP00000388838.1:p.Arg92Gln

Variation displays