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 2:128186061 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920595

Most severe consequence
Clinical significance

Synonyms

LSDB 17265

This variation has 11 HGVS names - click the plus to show

2:g.128186061G>A
ENST00000409048.1:c.1027G>A
ENSP00000386679.1:p.Ala343Thr
ENST00000402125.2:c.249G>A
ENSP00000384225.2:p.Ala84Thr
ENST00000422777.3:c.925G>A
ENSP00000409543.3:p.Ala309Thr
ENST00000453608.2:c.1090G>A
ENSP00000404030.2:p.Ala364Thr
ENST00000234071.3:c.925G>A
ENSP00000234071.3:p.Ala309Thr

Variation displays