Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 2:127421397 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950981

Most severe consequence
Clinical significance

Synonyms

LSDB 17267

This variation has 14 HGVS names - click the plus to show

2:g.127421397A>C
ENST00000409048.1:c.185A>C
ENSP00000386679.1:p.Glu62Ala
ENST00000429925.3:c.185A>C
ENSP00000412697.1:p.Glu62Ala
ENST00000427769.3:c.185A>C
ENSP00000406295.1:p.Glu62Ala
ENST00000419985.3:c.150A>C
ENST00000431364.1:c.150A>C
ENST00000474030.3:n.268A>C
ENST00000234071.5:c.185A>C
ENSP00000234071.3:p.Glu62Ala
ENST00000442644.3:c.185A>C
ENSP00000411241.1:p.Glu62Ala

Variation displays