Canonical Allele Identifier: CA910080394
Gene:

Linked Data

dbSNP Id: rs918572336
gnomAD v3: 3-72266752-C-G
gnomAD v4: 3-72266752-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266752C>G , CM000665.2:g.72266752C>G GRCh38
NC_000003.11:g.72315903C>G , CM000665.1:g.72315903C>G GRCh37
NC_000003.10:g.72398593C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8356G>C