Canonical Allele Identifier: CA278115106
Gene:

Linked Data

dbSNP Id: rs974595756
gnomAD v3: 16-9249453-C-G
gnomAD v4: 16-9249453-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249453C>G , CM000678.2:g.9249453C>G GRCh38
NC_000016.9:g.9343310C>G , CM000678.1:g.9343310C>G GRCh37
NC_000016.8:g.9250811C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64720C>G