Original source

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

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

Chromosome 2:127426227 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS951513, CS930862, CM941184

Most severe consequence
Clinical significance

Synonyms

LSDB 17277

This variation has 7 HGVS names - click the plus to show

2:g.127426227G>C
ENST00000409048.1:c.780G>C
ENSP00000386679.1:p.Gln260His
ENST00000402125.2:c.121-2130G>C
ENST00000464089.1:n.264G>C
ENST00000234071.5:c.678G>C
ENSP00000234071.3:p.Gln226His

Variation displays