Original source

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

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

Chromosome 17:4899036 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM004693

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 HGVS names - click the plus to show

17:g.4899036C>G
ENST00000572438.1:n.977G>C
ENST00000293780.4:c.1291G>C
ENSP00000293780.4:p.Ala431Pro

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variant displays