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
Location

Chromosome 3:165830030 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM062445

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5077, 2010_April_001_019_BCHE_177400_0014

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

3:g.165830030A>G
ENST00000482958.1:c.1004T>C
ENSP00000419804.1:p.Leu335Pro
ENST00000264381.5:c.1004T>C
ENSP00000264381.3:p.Leu335Pro
ENST00000479451.3:c.107+7284T>C
ENST00000488954.1:c.107+7284T>C
ENST00000497011.3:c.1004T>C
ENSP00000419505.1:p.Leu335Pro

Genotyping chips

This variation has assays on: HumanCoreExome-12

Variation displays