Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: 0.30 (A)
Location

Chromosome 16:88713236 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM983302

Most severe consequence
Evidence status

Clinical significance

This variation has 10 synonyms - click the plus to show

This variation has 17 HGVS names - click the plus to show

16:g.88713236A>G
ENST00000563526.1:n.189T>C
ENST00000567174.1:c.214T>C
ENSP00000454951.1:p.Tyr72His
ENST00000568278.1:c.214T>C
ENSP00000455506.1:p.Tyr72His
ENST00000569359.1:c.214T>C
ENSP00000456079.1:p.Tyr72His
ENST00000566229.1:c.203T>C
ENSP00000457060.1:p.Val68Ala
ENST00000261623.3:c.214T>C
ENSP00000261623.3:p.Tyr72His
ENST00000562209.1:n.494T>C
ENST00000566534.1:n.236T>C
LRG_52:g.9222T>C
LRG_52t1.1:c.214T>C
LRG_52p1.1:p.Tyr72His

This variation has assays on 9 chips - click the plus to show

Variation displays