Canonical Allele Identifier: CA134548254
Gene:

Linked Data

dbSNP Id: rs906830751
gnomAD v3: 6-8169500-T-A
gnomAD v4: 6-8169500-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169500T>A , CM000668.2:g.8169500T>A GRCh38
NC_000006.11:g.8169733T>A , CM000668.1:g.8169733T>A GRCh37
NC_000006.10:g.8114732T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_926440.1:n.82+11240T>A
XR_926441.1:n.189+1580T>A
XR_926442.1:n.82+11240T>A
XR_926443.1:n.82+11240T>A
XR_001743950.1:n.179+1580T>A
XR_926440.2:n.74+11240T>A
XR_926441.2:n.179+1580T>A
XR_926443.2:n.83+11240T>A