Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 7:22991060 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS064402

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_032581.2:c.51+1G>A, NM_032581.3:c.51+1G>A

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

7:g.22991060C>T
ENST00000465661.1:n.285+1G>A
ENST00000440481.2:c.207-7015G>A
ENST00000409763.1:c.51+1G>A
ENST00000432176.3:c.51+1G>A
ENST00000477349.2:n.243+1G>A
ENST00000467005.2:n.246+1G>A
ENST00000409923.2:c.51+1G>A

Variation displays