Canonical Allele Identifier: CA857362354
Gene:

Linked Data

dbSNP Id: rs1192864199
gnomAD v3: 8-97269983-C-A
gnomAD v4: 8-97269983-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269983C>A , CM000670.2:g.97269983C>A GRCh38
NC_000008.10:g.98282211C>A , CM000670.1:g.98282211C>A GRCh37
NC_000008.9:g.98351387C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125390.1:n.471+149087G>T