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 5:132390833 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014409

Most severe consequence
Clinical significance

Synonyms

LSDB 11845

This variation has 10 HGVS names - click the plus to show

5:g.132390833G>A
ENST00000245407.5:c.1196G>A
ENSP00000245407.3:p.Arg399Gln
ENST00000435065.4:c.1268G>A
ENSP00000402760.2:p.Arg423Gln
ENST00000475308.1:n.1874G>A
ENST00000461013.3:n.8618G>A
ENST00000447841.3:c.112-1600G>A
ENST00000479605.3:n.299G>A
ENST00000448810.3:c.*48G>A

Variation displays