Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM980430

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

19:g.18786096T>C
ENST00000542601.5:c.1259A>G
ENSP00000439156.2:p.Asn420Ser
ENST00000425807.1:c.1199A>G
ENSP00000403792.1:p.Asn400Ser
ENST00000222271.5:c.1358A>G
ENSP00000222271.2:p.Asn453Ser

About this variant

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

Variation displays