Canonical Allele Identifier: CA134548266
Gene:

Linked Data

dbSNP Id: rs955373588
gnomAD v2: 6-8169831-C-A
gnomAD v3: 6-8169598-C-A
gnomAD v4: 6-8169598-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169598C>A , CM000668.2:g.8169598C>A GRCh38
NC_000006.11:g.8169831C>A , CM000668.1:g.8169831C>A GRCh37
NC_000006.10:g.8114830C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11338C>A
XR_926441.1:n.189+1678C>A
XR_926442.1:n.82+11338C>A
XR_926443.1:n.82+11338C>A
XR_001743950.1:n.179+1678C>A
XR_926440.2:n.74+11338C>A
XR_926441.2:n.179+1678C>A
XR_926443.2:n.83+11338C>A