Original source

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

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

Chromosome 17:19657862 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS993377, CM014032

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 16383

This variation has 22 HGVS names - click the plus to show

17:g.19657862G>C
ENST00000630662.1:c.-184G>C
ENST00000395575.5:c.798G>C
ENSP00000378942.2:p.Lys266Asn
ENST00000631291.1:c.798G>C
ENSP00000486085.1:p.Lys266Asn
ENST00000581518.4:c.798G>C
ENSP00000461916.1:p.Lys266Asn
ENST00000571537.1:c.291G>C
ENSP00000458942.1:p.Lys97Asn
ENST00000472059.4:c.*356G>C
ENST00000176643.9:c.798G>C
ENSP00000176643.6:p.Lys266Asn
ENST00000582991.4:c.798G>C
ENSP00000464153.1:p.Lys266Asn
ENST00000579855.4:c.798G>C
ENSP00000463637.1:p.Lys266Asn
ENST00000339618.7:c.798G>C
ENSP00000345774.4:p.Lys266Asn
ENST00000578696.1:c.229G>C
ENSP00000464453.1:p.Lys77Asn
ENST00000476965.4:n.548G>C

About this variant

This variant overlaps 18 transcripts and is associated with 1 phenotype.

Variation displays