Canonical Allele Identifier: CA573138639
Gene:

Linked Data

dbSNP Id: rs1363996527
gnomAD v2: 7-17997522-A-G
gnomAD v3: 7-17957899-A-G
gnomAD v4: 7-17957899-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17957899A>G , CM000669.2:g.17957899A>G GRCh38
NC_000007.13:g.17997522A>G , CM000669.1:g.17997522A>G GRCh37
NC_000007.12:g.17964047A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927078.1:n.271-771A>G