Canonical Allele Identifier: CA965996484
Gene:

Linked Data

dbSNP Id: rs1884675395
gnomAD v3: 14-92314692-T-C
gnomAD v4: 14-92314692-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92314692T>C , CM000676.2:g.92314692T>C GRCh38
NC_000014.8:g.92781036T>C , CM000676.1:g.92781036T>C GRCh37
NC_000014.7:g.91850789T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_944153.1:n.132-554T>C
Search 100 bp 5'
Search 100 bp 3'