Canonical Allele Identifier: CA828661878
Gene:

Linked Data

dbSNP Id: rs1471152131
gnomAD v3: 6-8169499-G-A
gnomAD v4: 6-8169499-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169499G>A , CM000668.2:g.8169499G>A GRCh38
NC_000006.11:g.8169732G>A , CM000668.1:g.8169732G>A GRCh37
NC_000006.10:g.8114731G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11239G>A
XR_926441.1:n.189+1579G>A
XR_926442.1:n.82+11239G>A
XR_926443.1:n.82+11239G>A
XR_001743950.1:n.179+1579G>A
XR_926440.2:n.74+11239G>A
XR_926441.2:n.179+1579G>A
XR_926443.2:n.83+11239G>A