Canonical Allele Identifier: CA133346557
Gene:

Linked Data

dbSNP Id: rs368410512
gnomAD v2: 6-465879-A-C
gnomAD v3: 6-465879-A-C
gnomAD v4: 6-465879-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.465879A>C , CM000668.2:g.465879A>C GRCh38
NC_000006.11:g.465879A>C , CM000668.1:g.465879A>C GRCh37
NC_000006.10:g.410879A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926364.1:n.2714+12154A>C
XR_926365.1:n.2548+12154A>C
XR_001743914.1:n.482-9329A>C