Canonical Allele Identifier: CA1052104046
Gene:

Linked Data

dbSNP Id: rs1708402536
gnomAD v3: 3-109743612-C-T
gnomAD v4: 3-109743612-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.109743612C>T , CM000665.2:g.109743612C>T GRCh38
NC_000003.11:g.109462459C>T , CM000665.1:g.109462459C>T GRCh37
NC_000003.10:g.110945149C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_924325.1:n.142+63417C>T
Search 100 bp 5'
Search 100 bp 3'