Canonical Allele Identifier: CA576613506
Gene:

Linked Data

dbSNP Id: rs1465230251
gnomAD v2: 7-97017640-A-G
gnomAD v3: 7-97388328-A-G
gnomAD v4: 7-97388328-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388328A>G , CM000669.2:g.97388328A>G GRCh38
NC_000007.13:g.97017640A>G , CM000669.1:g.97017640A>G GRCh37
NC_000007.12:g.96855576A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745293.1:n.127-59681T>C