Canonical Allele Identifier: CA934286454
Gene:

Linked Data

dbSNP Id: rs1862670295
gnomAD v3: 11-747016-G-A
gnomAD v4: 11-747016-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.747016G>A , CM000673.2:g.747016G>A GRCh38
NC_000011.9:g.747016G>A , CM000673.1:g.747016G>A GRCh37
NC_000011.8:g.737016G>A NCBI36
NG_008160.1:g.4585G>A

Transcript Alleles

HGVS Amino-acid change
XR_930963.1:n.259+167G>A