Canonical Allele Identifier: CA12184061
Gene:

Linked Data

dbSNP Id: rs9393366
gnomAD v2: 6-23077311-G-A
gnomAD v3: 6-23077083-G-A
gnomAD v4: 6-23077083-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.23077083G>A , CM000668.2:g.23077083G>A GRCh38
NC_000006.11:g.23077311G>A , CM000668.1:g.23077311G>A GRCh37
NC_000006.10:g.23185290G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_926583.1:n.246-20016C>T
XR_926584.1:n.246-60263C>T
XR_926583.2:n.246-20016C>T