Canonical Allele Identifier: CA173695186
Gene:

Linked Data

dbSNP Id: rs537697176
gnomAD v2: 8-20626263-G-A
gnomAD v3: 8-20768752-G-A
gnomAD v4: 8-20768752-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20768752G>A , CM000670.2:g.20768752G>A GRCh38
NC_000008.10:g.20626263G>A , CM000670.1:g.20626263G>A GRCh37
NC_000008.9:g.20670543G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949569.3:n.72-21694G>A