Canonical Allele Identifier: CA974496524
Gene:

Linked Data

dbSNP Id: rs1596515530
gnomAD v3: 16-9249577-T-C
gnomAD v4: 16-9249577-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249577T>C , CM000678.2:g.9249577T>C GRCh38
NC_000016.9:g.9343434T>C , CM000678.1:g.9343434T>C GRCh37
NC_000016.8:g.9250935T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64844T>C
Search 100 bp 5'
Search 100 bp 3'