Canonical Allele Identifier: CA182463607
Gene:

Linked Data

dbSNP Id: rs182806379
gnomAD v3: 8-97269688-A-G
gnomAD v4: 8-97269688-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269688A>G , CM000670.2:g.97269688A>G GRCh38
NC_000008.10:g.98281916A>G , CM000670.1:g.98281916A>G GRCh37
NC_000008.9:g.98351092A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149382T>C