Canonical Allele Identifier: CA1106753683
Gene:

Linked Data

dbSNP Id: rs1469681755
gnomAD v3: 7-124306287-G-A
gnomAD v4: 7-124306287-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124306287G>A , CM000669.2:g.124306287G>A GRCh38
NC_000007.13:g.123946341G>A , CM000669.1:g.123946341G>A GRCh37
NC_000007.12:g.123733577G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956584.1:n.73-191G>A
Search 100 bp 5'
Search 100 bp 3'