Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 6:10404509 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM102900, CM085950

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_003220.2:c.763A>G, 444

This variation has 21 HGVS names - click the plus to show

6:g.10404509T>C
ENST00000498450.1:c.334A>G
ENSP00000419961.1:p.Arg112Gly
ENST00000478375.4:n.763A>G
ENST00000461628.4:c.86A>G
ENSP00000417735.1:p.Arg30Gly
ENST00000379613.6:c.769A>G
ENSP00000368933.3:p.Arg257Gly
ENST00000488193.4:c.*260A>G
ENST00000489805.4:c.*260A>G
ENST00000497266.4:n.734A>G
ENST00000482890.4:c.763A>G
ENSP00000418541.1:p.Arg255Gly
ENST00000475264.4:c.477A>G
ENSP00000419696.1:p.Arg160Gly
ENST00000379608.6:c.745A>G
ENSP00000368928.3:p.Arg249Gly
ENST00000466073.4:c.763A>G
ENSP00000417495.1:p.Arg255Gly
ENST00000319516.7:c.751A>G
ENSP00000316516.4:p.Arg251Gly

About this variant

This variant overlaps 19 transcripts and is associated with 2 phenotypes.

Variation displays