Original source

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

Alleles
A/C/G | Ancestral: A | Ambiguity code: V
Location

Chromosome 12:52302256 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992904, CM990784 ; PhenCode HIFD_KRT86:c.340A>G (A/G), HIFD_KRT86:c.340A>C (A/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

Variant allele C
12:g.52302256A>C
ENST00000423955.3:c.340A>C
ENSP00000444533.1:p.Asn114His
ENST00000293525.5:c.340A>C
ENSP00000293525.5:p.Asn114His
ENST00000553310.3:c.340A>C
ENSP00000452237.3:p.Asn114His

Variant allele G
12:g.52302256A>G
ENST00000423955.3:c.340A>G
ENSP00000444533.1:p.Asn114Asp
ENST00000293525.5:c.340A>G
ENSP00000293525.5:p.Asn114Asp
ENST00000553310.3:c.340A>G
ENSP00000452237.3:p.Asn114Asp

Variation displays