Canonical Allele Identifier: CA565609296
Gene:

Linked Data

dbSNP Id: rs1486328891
gnomAD v2: 6-11943905-A-G
gnomAD v3: 6-11943672-A-G
gnomAD v4: 6-11943672-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943672A>G , CM000668.2:g.11943672A>G GRCh38
NC_000006.11:g.11943905A>G , CM000668.1:g.11943905A>G GRCh37
NC_000006.10:g.12051891A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7863A>G