Canonical Allele Identifier: CA583781697

Gene:

Linked Data

• dbSNP Id: rs1264587209
• gnomAD v2: 8-98281784-C-T
• gnomAD v3: 8-97269556-C-T
• gnomAD v4: 8-97269556-C-T
• MyVariant Identifiers: chr8:g.98281784C>T (hg19) ; chr8:g.97269556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269556C>T , CM000670.2:g.97269556C>T	GRCh38
NC_000008.10:g.98281784C>T , CM000670.1:g.98281784C>T	GRCh37
NC_000008.9:g.98350960C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149514G>A