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 5:132378380 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM991135

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11832

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

5:g.132378380G>A
ENST00000435065.4:c.468G>A
ENSP00000402760.2:p.Trp156Ter
ENST00000461013.3:n.2153G>A
ENST00000415928.3:c.165G>A
ENSP00000388838.1:p.Trp55Ter
ENST00000245407.5:c.396G>A
ENSP00000245407.3:p.Trp132Ter
ENST00000437841.4:c.394-6948G>A

Variation displays