Canonical Allele Identifier: CA278115099
Gene:

Linked Data

dbSNP Id: rs767698383
gnomAD v3: 16-9249435-C-A
gnomAD v4: 16-9249435-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249435C>A , CM000678.2:g.9249435C>A GRCh38
NC_000016.9:g.9343292C>A , CM000678.1:g.9343292C>A GRCh37
NC_000016.8:g.9250793C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64702C>A