Original source

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

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

Chromosome 18:21113434 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990948

Most severe consequence
Clinical significance

Synonyms

LSDB 15112

This variation has 15 HGVS names - click the plus to show

18:g.21113434C>G
ENST00000269228.5:c.3639G>C
ENSP00000269228.4:p.Leu1213Phe
ENST00000591051.1:c.2717G>C
ENSP00000467636.1:p.Leu906Phe
ENST00000586150.1:c.394G>C
ENSP00000468321.1:p.Leu132Phe
ENST00000590723.1:c.48G>C
ENSP00000464755.1:p.Leu16Phe
ENST00000587163.1:n.163G>C
ENST00000591107.2:c.316G>C
ENSP00000468438.1:p.Leu106Phe
ENST00000412552.2:c.2685G>C
ENSP00000408606.2:p.Leu895Phe
ENST00000588867.1:n.1322G>C

Variation displays