Canonical Allele Identifier: CA71252410
Gene:

Linked Data

dbSNP Id: rs1025222286
gnomAD v2: 3-21248668-A-G
gnomAD v3: 3-21207176-A-G
gnomAD v4: 3-21207176-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.21207176A>G , CM000665.2:g.21207176A>G GRCh38
NC_000003.11:g.21248668A>G , CM000665.1:g.21248668A>G GRCh37
NC_000003.10:g.21223672A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940646.1:n.254-3822A>G
XR_940646.2:n.547-3822A>G