Canonical Allele Identifier: CA1104780591
Gene:

Linked Data

dbSNP Id: rs1789256368
gnomAD v3: 7-97388368-T-A
gnomAD v4: 7-97388368-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388368T>A , CM000669.2:g.97388368T>A GRCh38
NC_000007.13:g.97017680T>A , CM000669.1:g.97017680T>A GRCh37
NC_000007.12:g.96855616T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745293.1:n.127-59721A>T
Search 100 bp 5'
Search 100 bp 3'