Canonical Allele Identifier: CA133346655
Gene:

Linked Data

dbSNP Id: rs549651266
gnomAD v2: 6-465943-G-A
gnomAD v3: 6-465943-G-A
gnomAD v4: 6-465943-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.465943G>A , CM000668.2:g.465943G>A GRCh38
NC_000006.11:g.465943G>A , CM000668.1:g.465943G>A GRCh37
NC_000006.10:g.410943G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926364.1:n.2714+12218G>A
XR_926365.1:n.2548+12218G>A
XR_001743914.1:n.482-9265G>A