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 18:23561461 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012419

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15121, NM_000271.3:c.530G>A

This variation has 4 HGVS names - click the plus to show

18:g.23561461C>T
ENST00000269228.7:c.530G>A
ENSP00000269228.4:p.Cys177Tyr
ENST00000540608.3:n.444G>A

Variation displays