Canonical Allele Identifier: CA953408006
Gene:

Linked Data

dbSNP Id: rs1953651961
gnomAD v3: 12-131529567-C-A
gnomAD v4: 12-131529567-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529567C>A , CM000674.2:g.131529567C>A GRCh38
NC_000012.11:g.132014112C>A , CM000674.1:g.132014112C>A GRCh37
NC_000012.10:g.130580065C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+208G>T
XR_001749407.2:n.1067+208G>T
Search 100 bp 5'
Search 100 bp 3'