Canonical Allele Identifier: CA725798571
Gene:

Linked Data

dbSNP Id: rs1225508452
gnomAD v3: 16-9249709-G-A
gnomAD v4: 16-9249709-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249709G>A , CM000678.2:g.9249709G>A GRCh38
NC_000016.9:g.9343566G>A , CM000678.1:g.9343566G>A GRCh37
NC_000016.8:g.9251067G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64976G>A