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 17:4900845 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM960300

Most severe consequence
Clinical significance

Synonyms

LSDB 30

This variation has 5 HGVS names - click the plus to show

17:g.4900845G>A
ENST00000572438.1:n.551C>T
ENST00000293780.4:c.865C>T
ENSP00000293780.4:p.Leu289Phe
ENST00000381365.3:c.*312G>A

Variation displays