Canonical Allele Identifier: CA1098599453
Gene:

Linked Data

gnomAD v3: 7-13514386-T-C
gnomAD v4: 7-13514386-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514386T>C , CM000669.2:g.13514386T>C GRCh38
NC_000007.13:g.13554011T>C , CM000669.1:g.13554011T>C GRCh37
NC_000007.12:g.13520536T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.148-187930T>C
Search 100 bp 5'
Search 100 bp 3'