Canonical Allele Identifier: CA1102732562
Gene:

Linked Data

dbSNP Id: rs1788208375
gnomAD v3: 7-69146928-T-G
gnomAD v4: 7-69146928-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69146928T>G , CM000669.2:g.69146928T>G GRCh38
NC_000007.13:g.68611915T>G , CM000669.1:g.68611915T>G GRCh37
NC_000007.12:g.68249851T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-802A>C
Search 100 bp 5'
Search 100 bp 3'