Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S | MAF: 0.10 (G)
Location

Chromosome 12:40263898 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM104618

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

12:g.40263898C>G
ENST00000343742.4:c.1653C>G
ENSP00000341930.2:p.Asn551Lys
ENST00000416796.3:c.897C>G
ENSP00000398726.1:p.Asn299Lys
ENST00000298910.9:c.1653C>G
ENSP00000298910.7:p.Asn551Lys

This variation has assays on 5 chips - click the plus to show

Variation displays