Original source

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

Alleles
C/T | Ambiguity code: Y
Location

Chromosome 22:38120304 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM067724

Most severe consequence
Clinical significance

Synonyms

LSDB 16516

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

22:g.38120304C>T
ENST00000455236.2:c.*2077C>T
ENST00000406386.3:c.1741C>T
ENSP00000384312.3:p.Gln581Ter
ENST00000344404.6:c.*1224C>T
ENST00000492485.1:n.1675C>T

Variation displays