Original source

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

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

Chromosome 16:3293310 (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 20 HGVS names - click the plus to show

16:g.3293310A>G
ENST00000538326.1:c.*802T>C
ENST00000576315.1:c.*694T>C
ENST00000219596.1:c.2177T>C
ENSP00000219596.1:p.Val726Ala
ENST00000536980.1:c.*453T>C
ENST00000536379.1:c.1544T>C
ENSP00000445079.1:p.Val515Ala
ENST00000339854.4:c.1637T>C
ENSP00000339639.4:p.Val546Ala
ENST00000570511.1:c.*661T>C
ENST00000541159.1:c.*381T>C
ENST00000574583.1:c.*661T>C
ENST00000542898.1:c.*453T>C
ENST00000572244.1:c.*561T>C
ENST00000537682.1:c.*453T>C
ENST00000539145.1: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