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 8:31147397 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961465

Most severe consequence
Clinical significance

Synonyms

LSDB 12750

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

8:g.31147397C>T
ENST00000521620.2:n.2126C>T
ENST00000298139.5:c.3493C>T
ENSP00000298139.5:p.Gln1165Ter
LRG_524:g.119136C>T
LRG_524t1.1:c.3493C>T
LRG_524p1.1:p.Gln1165Ter

Variation displays