Canonical Allele Identifier: CA162129272
Gene:

Linked Data

dbSNP Id: rs1019738459
gnomAD v3: 7-87913810-A-G
gnomAD v4: 7-87913810-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87913810A>G , CM000669.2:g.87913810A>G GRCh38
NC_000007.13:g.87543125A>G , CM000669.1:g.87543125A>G GRCh37
NC_000007.12:g.87381061A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927723.1:n.148+91T>C
XR_927724.1:n.192+91T>C