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 22:38120925 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM060497

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 16518

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

22:g.38120925C>T
ENST00000455236.2:c.*2698C>T
ENST00000344404.6:c.*1845C>T
ENST00000406386.3:c.2362C>T
ENSP00000384312.3:p.Arg788Ter
ENST00000492485.1:n.2296C>T

Variation displays