Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 11:47234784 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM960484, CD031829

Most severe consequence
Clinical significance

Synonyms

LSDB 9556

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

11:g.47234784A>G
ENST00000617847.2:c.*372A>G
ENST00000256996.6:c.730A>G
ENSP00000256996.3:p.Lys244Glu
ENST00000616278.2:c.*85+112A>G
ENST00000614394.1:n.120A>G
ENST00000378603.5:c.538A>G
ENSP00000367866.3:p.Lys180Glu
ENST00000620515.1:n.46+112A>G
ENST00000612309.2:n.1844A>G
ENST00000378601.5:c.702+112A>G
ENST00000378600.5:c.457-3053A>G
ENST00000617022.2:n.1554-3053A>G
LRG_467:g.24843A>G
LRG_467t1.1:c.730A>G
LRG_467p1.1:p.Lys244Glu

Variation displays