Canonical Allele Identifier: CA583207374

Gene:

Linked Data

• dbSNP Id: rs1265758325
• gnomAD v2: 8-80103401-C-T
• gnomAD v3: 8-79191166-C-T
• gnomAD v4: 8-79191166-C-T
• MyVariant Identifiers: chr8:g.80103401C>T (hg19) ; chr8:g.79191166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79191166C>T , CM000670.2:g.79191166C>T	GRCh38
NC_000008.10:g.80103401C>T , CM000670.1:g.80103401C>T	GRCh37
NC_000008.9:g.80265956C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745720.1:n.105+795C>T