Original source

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

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

Chromosome 10:71791215 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010181

Most severe consequence
Clinical significance

Synonyms

LSDB 13247

This variation has 5 HGVS names - click the plus to show

10:g.71791215G>A
ENST00000622827.3:c.6133G>A
ENSP00000483211.1:p.Asp2045Asn
ENST00000224721.9:c.6283G>A
ENSP00000224721.7:p.Asp2095Asn

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variation displays