Original source

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

Alleles
C/A/T | Ancestral: C | Ambiguity code: H
Location

Chromosome 9:133639848 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM020268

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

Variant allele A
9:g.133639848C>A
ENST00000263611.2:c.298-2359C>A
ENST00000393056.4:c.342C>A
ENSP00000376776.2:p.Asp114Glu

Variant allele T
9:g.133639848C>T
ENST00000263611.2:c.298-2359C>T
ENST00000393056.4:c.342C>T

Variation displays