Original source

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

Alleles
C/A/G|Ancestral: C|Ambiguity code: V
Location

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

Co-located variant

HGMD-PUBLIC CM004693

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 8 HGVS names - Hide

Variant allele A
17:g.4899036C>A
ENST00000572438.1:n.977G>T
ENST00000293780.4:c.1291G>T
ENSP00000293780.4:p.Ala431Ser

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

About this variant

This variant overlaps 30 transcripts and is associated with 2 phenotypes.

Variant displays