Canonical Allele Identifier: CA182463432

Gene:

Linked Data

• dbSNP Id: rs974523849
• gnomAD v2: 8-98281665-C-T
• gnomAD v3: 8-97269437-C-T
• gnomAD v4: 8-97269437-C-T
• MyVariant Identifiers: chr8:g.98281665C>T (hg19) ; chr8:g.97269437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269437C>T , CM000670.2:g.97269437C>T	GRCh38
NC_000008.10:g.98281665C>T , CM000670.1:g.98281665C>T	GRCh37
NC_000008.9:g.98350841C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149633G>A