Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variant

HGMD-PUBLIC CM014082

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 11 HGVS names - Hide

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, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays