Canonical Allele Identifier: CA680186683
Gene:

Linked Data

dbSNP Id: rs1454999029
gnomAD v3: 11-747018-G-A
gnomAD v4: 11-747018-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.747018G>A , CM000673.2:g.747018G>A GRCh38
NC_000011.9:g.747018G>A , CM000673.1:g.747018G>A GRCh37
NC_000011.8:g.737018G>A NCBI36
NG_008160.1:g.4587G>A

Transcript Alleles

HGVS Amino-acid change
XR_930963.1:n.259+169G>A