Canonical Allele Identifier: CA926413688
Gene:

Linked Data

dbSNP Id: rs1839591376
gnomAD v3: 10-30201888-T-A
gnomAD v4: 10-30201888-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30201888T>A , CM000672.2:g.30201888T>A GRCh38
NC_000010.10:g.30490817T>A , CM000672.1:g.30490817T>A GRCh37
NC_000010.9:g.30530823T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930791.1:n.1193-1599T>A
XR_930791.2:n.1449-1599T>A
Search 100 bp 5'
Search 100 bp 3'