Canonical Allele Identifier: CA580743488
Gene:

Linked Data

dbSNP Id: rs1355202087
gnomAD v2: 8-20592410-A-G
gnomAD v3: 8-20734899-A-G
gnomAD v4: 8-20734899-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20734899A>G , CM000670.2:g.20734899A>G GRCh38
NC_000008.10:g.20592410A>G , CM000670.1:g.20592410A>G GRCh37
NC_000008.9:g.20636690A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949569.3:n.72-55547A>G