Canonical Allele Identifier: CA1104780564
Gene:

Linked Data

dbSNP Id: rs1789255998
gnomAD v3: 7-97388335-T-C
gnomAD v4: 7-97388335-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388335T>C , CM000669.2:g.97388335T>C GRCh38
NC_000007.13:g.97017647T>C , CM000669.1:g.97017647T>C GRCh37
NC_000007.12:g.96855583T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745293.1:n.127-59688A>G
Search 100 bp 5'
Search 100 bp 3'