Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 19:18786096 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980430

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

19:g.18786096T>C
ENST00000542601.6:c.1259A>G
ENSP00000439156.2:p.Asn420Ser
ENST00000222271.6:c.1358A>G
ENSP00000222271.2:p.Asn453Ser
ENST00000425807.1:c.1199A>G
ENSP00000403792.1:p.Asn400Ser

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays