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 13:110162425 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061689

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 960, NM_001845.4:c.4267G>C

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

13:g.110162425C>G
ENST00000375820.5:c.4267G>C
ENSP00000364979.4:p.Gly1423Arg
ENST00000474391.1:n.114G>C
ENST00000467182.1:n.46G>C

Variation displays