Original source

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

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

Chromosome 19:45767073 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM071086

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_175875.3:c.886G>A, 9735, 2010_April_001_100_SIX5_600963_0002

This variation has 7 HGVS names - click the plus to show

19:g.45767073C>T
ENST00000622857.1:c.16-1111G>A
ENST00000559756.1:n.1180+1109C>T
ENST00000560160.1:c.587-962G>A
ENST00000560168.1:c.*74G>A
ENST00000317578.6:c.886G>A
ENSP00000316842.4:p.Ala296Thr

Variation displays