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
Location

Chromosome 4:1002747 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920372

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6442

This variation has 7 HGVS names - click the plus to show

4:g.1002747G>A
ENST00000514224.1:c.809G>A
ENSP00000425081.1:p.Trp270Ter
ENST00000514698.3:n.1312G>A
ENST00000247933.6:c.1205G>A
ENSP00000247933.4:p.Trp402Ter
ENST00000502829.1:n.7G>A

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays