Canonical Allele Identifier: CA1049292769
Gene:

Linked Data

dbSNP Id: rs1701575351
gnomAD v3: 3-70577255-T-C
gnomAD v4: 3-70577255-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577255T>C , CM000665.2:g.70577255T>C GRCh38
NC_000003.11:g.70626406T>C , CM000665.1:g.70626406T>C GRCh37
NC_000003.10:g.70709096T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.406+1263A>G
XR_001740559.1:n.366+1263A>G
Search 100 bp 5'
Search 100 bp 3'