Canonical Allele Identifier: CA569191053
Gene:

Linked Data

dbSNP Id: rs1189563818
gnomAD v2: 6-98550355-G-A
gnomAD v3: 6-98102479-G-A
gnomAD v4: 6-98102479-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102479G>A , CM000668.2:g.98102479G>A GRCh38
NC_000006.11:g.98550355G>A , CM000668.1:g.98550355G>A GRCh37
NC_000006.10:g.98657076G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3209G>A
XR_942809.1:n.456+3209G>A