Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 1:227073304 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951087

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

1:g.227073304A>T
ENST00000422240.2:c.422A>T
ENSP00000403737.2:p.Asn141Ile
ENST00000496965.1:c.422A>T
ENSP00000430647.1:p.Asn141Ile
ENST00000366782.1:c.521A>T
ENSP00000355746.1:p.Asn174Ile
ENST00000472139.2:c.-11A>T
ENST00000391872.2:c.521A>T
ENSP00000375745.2:p.Asn174Ile
ENST00000460775.1:c.-21-2488A>T
ENST00000366783.3:c.422A>T
ENSP00000355747.3:p.Asn141Ile
ENST00000340188.4:c.422A>T
ENSP00000339860.4:p.Asn141Ile

Variation displays