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 11:44108226 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM960517

Most severe consequence
Clinical significance

Synonyms

LSDB 15576

This variation has 15 HGVS names - click the plus to show

11:g.44108226C>T
ENST00000529186.1:n.212C>T
ENST00000533608.3:c.514C>T
ENSP00000431173.1:p.Gln172Ter
ENST00000358681.6:c.514C>T
ENSP00000351509.4:p.Gln172Ter
ENST00000395673.5:c.613C>T
ENSP00000379032.3:p.Gln205Ter
ENST00000343631.3:c.514C>T
ENSP00000342656.3:p.Gln172Ter
LRG_494:g.17678C>T
LRG_494t2.1:c.514C>T
LRG_494p2.1:p.Gln172Ter
LRG_494t1.1:c.613C>T
LRG_494p1.1:p.Gln205Ter

Variation displays