Original source

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

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

Chromosome 3:165830222 (forward strand) | View in location tab

Co-located

with COSMIC COSM1420410 (G/A) ; HGMD-PUBLIC CM920124

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

3:g.165830222G>A
ENST00000482958.1:c.812C>T
ENSP00000419804.1:p.Thr271Met
ENST00000264381.5:c.812C>T
ENSP00000264381.3:p.Thr271Met
ENST00000479451.3:c.107+7092C>T
ENST00000488954.1:c.107+7092C>T
ENST00000497011.3:c.812C>T
ENSP00000419505.1:p.Thr271Met

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays