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 11:47235326 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990471

Most severe consequence
Clinical significance

Synonyms

LSDB 9558

This variation has 16 HGVS names - click the plus to show

11:g.47235326C>T
ENST00000617847.2:c.*579C>T
ENST00000256996.6:c.937C>T
ENSP00000256996.3:p.Arg313Ter
ENST00000616278.2:c.*142C>T
ENST00000614394.1:n.327C>T
ENST00000378603.5:c.745C>T
ENSP00000367866.3:p.Arg249Ter
ENST00000620515.1:n.103C>T
ENST00000612309.2:n.2386C>T
ENST00000378601.5:c.*24C>T
ENST00000378600.5:c.457-2511C>T
ENST00000617022.2:n.1554-2511C>T
LRG_467:g.25385C>T
LRG_467t1.1:c.937C>T
LRG_467p1.1:p.Arg313Ter

Variation displays