Original source

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

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

Chromosome 1:226888979 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM000204

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 13 HGVS names - Hide

1:g.226888979G>A
ENST00000422240.6:c.717G>A
ENSP00000403737.2:p.Met239Ile
ENST00000366782.5:c.816G>A
ENSP00000355746.1:p.Met272Ile
ENST00000460775.5:c.198G>A
ENSP00000427912.1:p.Met66Ile
ENST00000366783.7:c.717G>A
ENSP00000355747.3:p.Met239Ile
ENST00000472139.2:c.285G>A
ENSP00000427806.1:p.Met95Ile
ENST00000626989.2:c.816G>A
ENSP00000486498.1:p.Met272Ile

About this variant

This variant overlaps 9 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays