Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 18:21116700 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990946

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15113, NM_000271.3:c.3182T>C

This variation has 8 HGVS names - click the plus to show

18:g.21116700A>G
ENST00000269228.5:c.3182T>C
ENSP00000269228.4:p.Ile1061Thr
ENST00000591051.1:c.2260T>C
ENSP00000467636.1:p.Ile754Thr
ENST00000591955.1:n.525T>C
ENST00000412552.2:c.2228T>C
ENSP00000408606.2:p.Ile743Thr

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays