Canonical Allele Identifier: CA1267947448
Gene:

Linked Data

dbSNP Id: rs1573064803
gnomAD v3: 2-88016248-A-G
gnomAD v4: 2-88016248-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016248A>G , CM000664.2:g.88016248A>G GRCh38
NC_000002.11:g.88315767A>G , CM000664.1:g.88315767A>G GRCh37
NC_000002.10:g.88096882A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.593A>G
XR_940336.3:n.593A>G