Canonical Allele Identifier: CA843440932
Gene:

Linked Data

dbSNP Id: rs1471609876
gnomAD v3: 7-87913854-A-T
gnomAD v4: 7-87913854-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87913854A>T , CM000669.2:g.87913854A>T GRCh38
NC_000007.13:g.87543169A>T , CM000669.1:g.87543169A>T GRCh37
NC_000007.12:g.87381105A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927723.1:n.148+47T>A
XR_927724.1:n.192+47T>A