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 18:23533470 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990948

Most severe consequence
Clinical significance

Synonyms

LSDB 15112

This variation has 13 HGVS names - click the plus to show

18:g.23533470C>G
ENST00000269228.7:c.3639G>C
ENSP00000269228.4:p.Leu1213Phe
ENST00000591051.1:c.2717G>C
ENSP00000467636.1:p.Leu906Phe
ENST00000586150.3:c.394G>C
ENSP00000468321.1:p.Leu132Phe
ENST00000590723.3:c.48G>C
ENSP00000464755.1:p.Leu16Phe
ENST00000587163.1:n.163G>C
ENST00000591107.4:c.316G>C
ENSP00000468438.1:p.Leu106Phe
ENST00000588867.1:n.1322G>C

Variation displays