Canonical Allele Identifier: CA1098599358
Gene:

Linked Data

dbSNP Id: rs1780381379
gnomAD v3: 7-13514176-G-A
gnomAD v4: 7-13514176-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514176G>A , CM000669.2:g.13514176G>A GRCh38
NC_000007.13:g.13553801G>A , CM000669.1:g.13553801G>A GRCh37
NC_000007.12:g.13520326G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.148-188140G>A
Search 100 bp 5'
Search 100 bp 3'