Original source

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

Alleles
A/C | Ancestral: C | Ambiguity code: M | MAF: 0.49 (A)
Location

Chromosome 1:50116500 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

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

1:g.50116500A>C
ENST00000463650.1:n.261+10550A>C
ENST00000371819.1:c.24+6536A>C
ENST00000357083.5:c.60+10107A>C
ENST00000371824.2:c.9+7302A>C
ENST00000448907.3:c.19-28457A>C
ENST00000371821.2:c.24+6536A>C
ENST00000371827.2:c.9+12500A>C
ENST00000494555.1:n.149+6536A>C
ENST00000371823.5:c.9+7302A>C

This variation has assays on 11 chips - click the plus to show

Variation displays