Canonical Allele Identifier: CA134548282
Gene:

Linked Data

dbSNP Id: rs1020027483
gnomAD v3: 6-8169685-G-A
gnomAD v4: 6-8169685-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169685G>A , CM000668.2:g.8169685G>A GRCh38
NC_000006.11:g.8169918G>A , CM000668.1:g.8169918G>A GRCh37
NC_000006.10:g.8114917G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11425G>A
XR_926441.1:n.189+1765G>A
XR_926442.1:n.82+11425G>A
XR_926443.1:n.82+11425G>A
XR_001743950.1:n.179+1765G>A
XR_926440.2:n.74+11425G>A
XR_926441.2:n.179+1765G>A
XR_926443.2:n.83+11425G>A