Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 14:50913028 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS982337

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_002863.3:c.1620+1G>A

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

14:g.50913028C>T
ENST00000216392.7:c.1620+1G>A
ENST00000532462.2:c.1620+1G>A
ENST00000544180.3:c.1518+1G>A
ENST00000557343.1:n.205C>T

Variation displays