Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 2:128183803 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM941184, CS930862, CS951513

Most severe consequence
Clinical significance

Synonyms

LSDB 17277

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

2:g.128183803G>C
ENST00000409048.1:c.780G>C
ENSP00000386679.1:p.Gln260His
ENST00000402125.2:c.121-2130G>C
ENST00000464089.1:n.264G>C
ENST00000453608.2:c.843G>C
ENSP00000404030.2:p.Gln281His
ENST00000422777.3:c.678G>C
ENSP00000409543.3:p.Gln226His
ENST00000234071.3:c.678G>C
ENSP00000234071.3:p.Gln226His

Variation displays