Canonical Allele Identifier: CA990137456
Gene:

Linked Data

dbSNP Id: rs2021992889
gnomAD v3: 18-49645837-C-A
gnomAD v4: 18-49645837-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49645837C>A , CM000680.2:g.49645837C>A GRCh38
NC_000018.9:g.47172207C>A , CM000680.1:g.47172207C>A GRCh37
NC_000018.8:g.45426205C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_935461.1:n.162-16197C>A
XR_001753446.1:n.898-16197C>A
Search 100 bp 5'
Search 100 bp 3'