Canonical Allele Identifier: CA857362149
Gene:

Linked Data

dbSNP Id: rs1458027525
gnomAD v3: 8-97269559-G-A
gnomAD v4: 8-97269559-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269559G>A , CM000670.2:g.97269559G>A GRCh38
NC_000008.10:g.98281787G>A , CM000670.1:g.98281787G>A GRCh37
NC_000008.9:g.98350963G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149511C>T