Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 1:227076680 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM000204

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 17 HGVS names - click the plus to show

1:g.227076680G>A
ENST00000422240.2:c.717G>A
ENSP00000403737.2:p.Met239Ile
ENST00000496965.1:c.717G>A
ENSP00000430647.1:p.Met239Ile
ENST00000366782.1:c.816G>A
ENSP00000355746.1:p.Met272Ile
ENST00000472139.2:c.285G>A
ENSP00000427806.1:p.Met95Ile
ENST00000391872.2:c.816G>A
ENSP00000375745.2:p.Met272Ile
ENST00000366783.3:c.717G>A
ENSP00000355747.3:p.Met239Ile
ENST00000460775.1:c.198G>A
ENSP00000427912.1:p.Met66Ile
ENST00000340188.4:c.717G>A
ENSP00000339860.4:p.Met239Ile

Variation displays