Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 1:226895548 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014082

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 11 HGVS names - click the plus to show

1:g.226895548A>C
ENST00000422240.6:c.1313A>C
ENSP00000403737.2:p.Asp438Ala
ENST00000366782.5:c.1415A>C
ENSP00000355746.1:p.Asp472Ala
ENST00000472139.2:c.884A>C
ENSP00000427806.1:p.Asp295Ala
ENST00000366783.7:c.1316A>C
ENSP00000355747.3:p.Asp439Ala
ENST00000626989.2:c.1415A>C
ENSP00000486498.1:p.Asp472Ala

About this variant

This variant overlaps 10 transcripts and is associated with 3 phenotypes.

Variant displays