Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 12:21654653 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930469

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 3772

This variation has 12 HGVS names - click the plus to show

12:g.21654653T>C
ENST00000396076.4:c.19A>G
ENSP00000379386.1:p.Lys7Glu
ENST00000450584.4:c.19A>G
ENSP00000398015.1:p.Lys7Glu
ENST00000544151.1:n.246A>G
ENST00000350669.4:c.19A>G
ENSP00000229319.1:p.Lys7Glu
ENST00000396075.4:c.19A>G
ENSP00000379385.1:p.Lys7Glu
ENST00000539782.1:c.19A>G
ENSP00000442680.1:p.Lys7Glu

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variation displays