Canonical Allele Identifier: CA185510916

Gene:

Linked Data

• dbSNP Id: rs997887238
• gnomAD v2: 8-126491044-C-T
• gnomAD v3: 8-125478802-C-T
• gnomAD v4: 8-125478802-C-T
• MyVariant Identifiers: chr8:g.126491044C>T (hg19) ; chr8:g.125478802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478802C>T , CM000670.2:g.125478802C>T	GRCh38
NC_000008.10:g.126491044C>T , CM000670.1:g.126491044C>T	GRCh37
NC_000008.9:g.126560226C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5488C>T