Canonical Allele Identifier: CA1049292759
Gene:

Linked Data

dbSNP Id: rs1701575019
gnomAD v3: 3-70577219-G-A
gnomAD v4: 3-70577219-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577219G>A , CM000665.2:g.70577219G>A GRCh38
NC_000003.11:g.70626370G>A , CM000665.1:g.70626370G>A GRCh37
NC_000003.10:g.70709060G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.407-1266C>T
XR_001740559.1:n.367-1266C>T
Search 100 bp 5'
Search 100 bp 3'