Canonical Allele Identifier: CA1098940694
Gene:

Linked Data

dbSNP Id: rs1583893701
gnomAD v3: 7-17957865-T-C
gnomAD v4: 7-17957865-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17957865T>C , CM000669.2:g.17957865T>C GRCh38
NC_000007.13:g.17997488T>C , CM000669.1:g.17997488T>C GRCh37
NC_000007.12:g.17964013T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927078.1:n.271-805T>C
Search 100 bp 5'
Search 100 bp 3'