Canonical Allele Identifier: CA575244615
Gene:

Linked Data

dbSNP Id: rs1387594896
gnomAD v2: 7-68611867-A-G
gnomAD v3: 7-69146880-A-G
gnomAD v4: 7-69146880-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69146880A>G , CM000669.2:g.69146880A>G GRCh38
NC_000007.13:g.68611867A>G , CM000669.1:g.68611867A>G GRCh37
NC_000007.12:g.68249803A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-754T>C