Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 14:51390819 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS982336

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_002863.3:c.529-1G>C

This variation has 5 HGVS names - click the plus to show

14:g.51390819C>G
ENST00000216392.7:c.529-1G>C
ENST00000532462.1:c.529-1G>C
ENST00000530336.2:n.596-1G>C
ENST00000544180.2:c.427-1G>C

Variation displays