Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)
Location

Chromosome 16:3243257 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981246

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.3243257C>A
ENST00000621655.1:c.*531G>T
ENST00000538326.3:c.*855G>T
ENST00000536980.3:c.*506G>T
ENST00000339854.6:c.1690G>T
ENSP00000339639.4:p.Ala564Ser
ENST00000570511.3:c.*714G>T
ENST00000541159.3:c.*434G>T
ENST00000574583.3:c.*714G>T
ENST00000572244.3:c.*614G>T
ENST00000537682.3:c.*506G>T
ENST00000219596.3:c.2230G>T
ENSP00000219596.1:p.Ala744Ser
ENST00000576315.3:c.*747G>T
ENST00000536379.3:c.1597G>T
ENSP00000445079.1:p.Ala533Ser
ENST00000542898.3:c.*506G>T
ENST00000539145.3:c.*863G>T
LRG_190:g.18371G>T
LRG_190t1:c.2230G>T
LRG_190p1:p.Ala744Ser

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays