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 1:40820180 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990771

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

1:g.40820180G>A
ENST00000509682.3:c.961G>A
ENSP00000423756.2:p.Gly321Ser
ENST00000443478.3:c.647G>A
ENSP00000406735.3:p.Gly217Ser
ENST00000506017.1:n.280G>A
ENST00000347132.6:c.961G>A
ENSP00000262916.6:p.Gly321Ser

Variation displays