Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

Chromosome 1:173904010 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM890018, CM880011

Most severe consequence
Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 10 HGVS names - click the plus to show

Variant allele T
1:g.173904010C>T
ENST00000367698.3:c.1274G>A
ENSP00000356671.3:p.Arg425His
ENST00000617423.2:c.659G>A
ENSP00000478688.1:p.Arg220His

Variant allele G
1:g.173904010C>G
ENST00000367698.3:c.1274G>C
ENSP00000356671.3:p.Arg425Pro
ENST00000617423.2:c.659G>C
ENSP00000478688.1:p.Arg220Pro

Variation displays