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 4:185146939 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM003620

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_076_SLC25A4_103220_0002

This variation has 4 HGVS names - click the plus to show

4:g.185146939G>A
ENST00000491736.1:c.*642G>A
ENST00000281456.8:c.865G>A
ENSP00000281456.5:p.Val289Met

Variation displays