Canonical Allele Identifier: CA585052433

Gene:

Linked Data

• dbSNP Id: rs1038164479
• gnomAD v2: 8-128011910-C-T
• MyVariant Identifiers: chr8:g.128011910C>T (hg19) ; chr8:g.126999665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999665C>T , CM000670.2:g.126999665C>T	GRCh38
NC_000008.10:g.128011910C>T , CM000670.1:g.128011910C>T	GRCh37
NC_000008.9:g.128081092C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1301-6890C>T