Canonical Allele Identifier: CA1102732588
Gene:

Linked Data

dbSNP Id: rs1788209401
gnomAD v3: 7-69147020-A-G
gnomAD v4: 7-69147020-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69147020A>G , CM000669.2:g.69147020A>G GRCh38
NC_000007.13:g.68612007A>G , CM000669.1:g.68612007A>G GRCh37
NC_000007.12:g.68249943A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-894T>C