Canonical Allele Identifier: CA1591798695
Gene:

Linked Data

dbSNP Id: rs1760950969
gnomAD v3: 5-152354501-G-A
gnomAD v4: 5-152354501-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.152354501G>A , CM000667.2:g.152354501G>A GRCh38
NC_000005.9:g.151734062G>A , CM000667.1:g.151734062G>A GRCh37
NC_000005.8:g.151714255G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944433.1:n.196+16638G>A
XR_944433.2:n.197+16638G>A
Search 100 bp 5'
Search 100 bp 3'