Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 18:21136400 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012422

Most severe consequence
Clinical significance

Synonyms

LSDB 15117

This variation has 8 HGVS names - click the plus to show

18:g.21136400A>G
ENST00000269228.5:c.1133T>C
ENSP00000269228.4:p.Val378Ala
ENST00000412552.2:c.383T>C
ENSP00000408606.2:p.Val128Ala
ENST00000540608.1:n.1047T>C
ENST00000591051.1:c.415T>C
ENSP00000467636.1:p.Val139Ala

Variation displays