Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 19:46270124 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM071087

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_175875.3:c.1093G>A, 2010_April_001_101_SIX5_600963_0003, 9736

This variation has 6 HGVS names - click the plus to show

19:g.46270124C>T
ENST00000559756.1:n.1180+902C>T
ENST00000560160.1:c.587-755G>A
ENST00000560168.1:c.*281G>A
ENST00000317578.6:c.1093G>A
ENSP00000316842.4:p.Gly365Arg

Variation displays