Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 1:173914795 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM890015

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 6 HGVS names - click the plus to show

1:g.173914795G>A
ENST00000494024.1:n.392C>T
ENST00000367698.3:c.166C>T
ENSP00000356671.3:p.Arg56Cys
ENST00000617423.2:c.166C>T
ENSP00000478688.1:p.Arg56Cys

Variation displays