Canonical Allele Identifier: CA77246682
Gene:

Linked Data

dbSNP Id: rs566300653
gnomAD v2: 3-72316021-A-G
gnomAD v3: 3-72266870-A-G
gnomAD v4: 3-72266870-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266870A>G , CM000665.2:g.72266870A>G GRCh38
NC_000003.11:g.72316021A>G , CM000665.1:g.72316021A>G GRCh37
NC_000003.10:g.72398711A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8238T>C