Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 14:50924101 (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.50924101C>G
ENST00000216392.7:c.529-1G>C
ENST00000532462.3:c.529-1G>C
ENST00000530336.2:n.596-1G>C
ENST00000544180.4:c.427-1G>C

Variation displays