Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: < 0.01 (G)
Location

Chromosome 16:3243310 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970914

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 21 HGVS names - click the plus to show

16:g.3243310A>G
ENST00000538326.2:c.*802T>C
ENST00000621655.1:c.*478T>C
ENST00000536980.2:c.*453T>C
ENST00000339854.5:c.1637T>C
ENSP00000339639.4:p.Val546Ala
ENST00000541159.2:c.*381T>C
ENST00000570511.2:c.*661T>C
ENST00000574583.2:c.*661T>C
ENST00000572244.2:c.*561T>C
ENST00000537682.2:c.*453T>C
ENST00000576315.2:c.*694T>C
ENST00000219596.2:c.2177T>C
ENSP00000219596.1:p.Val726Ala
ENST00000536379.2:c.1544T>C
ENSP00000445079.1:p.Val515Ala
ENST00000542898.2:c.*453T>C
ENST00000539145.2:c.*810T>C
LRG_190:g.18318T>C
LRG_190t1.1:c.2177T>C
LRG_190p1.1:p.Val726Ala

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays