Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: < 0.01 (C)
Location

Chromosome 18:21118528 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992942

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_000271.3:c.3019C>G, 15115

This variation has 9 HGVS names - click the plus to show

18:g.21118528G>C
ENST00000591075.1:n.652C>G
ENST00000269228.5:c.3019C>G
ENSP00000269228.4:p.Pro1007Ala
ENST00000591955.1:n.362C>G
ENST00000412552.2:c.2065C>G
ENSP00000408606.2:p.Pro689Ala
ENST00000591051.1:c.2097C>G
ENSP00000467636.1:p.Pro700Ala

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays