Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S | MAF: 0.08 (G)
Location

Chromosome 16:3254626 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981240

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 23 HGVS names - click the plus to show

16:g.3254626C>G
ENST00000538326.3:c.442G>C
ENSP00000437486.1:p.Glu148Gln
ENST00000621655.1:c.277+1685G>C
ENST00000576315.3:c.277+1685G>C
ENST00000219596.3:c.442G>C
ENSP00000219596.1:p.Glu148Gln
ENST00000536980.3:c.277+1685G>C
ENST00000536379.3:c.277+1685G>C
ENST00000339854.6:c.277+1685G>C
ENST00000541159.3:c.277+1685G>C
ENST00000570511.3:c.442G>C
ENSP00000458312.1:p.Glu148Gln
ENST00000574583.3:c.277+1685G>C
ENST00000542898.3:c.442G>C
ENSP00000444615.1:p.Glu148Gln
ENST00000572244.3:c.277+1685G>C
ENST00000537682.3:c.442G>C
ENSP00000438611.1:p.Glu148Gln
ENST00000539145.3:c.277+1685G>C
LRG_190:g.7002G>C
LRG_190t1:c.442G>C
LRG_190p1:p.Glu148Gln

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni1-Quad, HumanCoreExome-12

Variation displays