Original source

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

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

Chromosome 2:128178973 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950981

Most severe consequence
Clinical significance

Synonyms

LSDB 17267

This variation has 18 HGVS names - click the plus to show

2:g.128178973A>C
ENST00000409048.1:c.185A>C
ENSP00000386679.1:p.Glu62Ala
ENST00000429925.1:c.185A>C
ENSP00000412697.1:p.Glu62Ala
ENST00000427769.1:c.185A>C
ENSP00000406295.1:p.Glu62Ala
ENST00000453608.2:c.248A>C
ENSP00000404030.2:p.Glu83Ala
ENST00000422777.3:c.185A>C
ENSP00000409543.3:p.Glu62Ala
ENST00000419985.1:c.150A>C
ENST00000474030.1:n.268A>C
ENST00000431364.1:c.150A>C
ENST00000234071.3:c.185A>C
ENSP00000234071.3:p.Glu62Ala
ENST00000442644.1:c.185A>C
ENSP00000411241.1:p.Glu62Ala

Variation displays