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 17:74922931 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031391

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_237_USH1G_607696_0001, 15164

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

17:g.74922931A>G
ENST00000579243.1:c.143T>C
ENSP00000462568.1:p.Leu48Pro
ENST00000614341.1:c.143T>C
ENSP00000480279.1:p.Leu48Pro

Variation displays