Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 17:4900860 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950260

Most severe consequence
Clinical significance

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

17:g.4900860T>G
ENST00000572438.1:n.536A>C
ENST00000293780.4:c.850A>C
ENSP00000293780.4:p.Thr284Pro
ENST00000381365.3:c.*327T>G

Variation displays