Canonical Allele Identifier: CA185688708

Gene:

Linked Data

• dbSNP Id: rs16901897
• gnomAD v2: 8-128012021-T-C
• gnomAD v3: 8-126999776-T-C
• gnomAD v4: 8-126999776-T-C
• MyVariant Identifiers: chr8:g.128012021T>C (hg19) ; chr8:g.126999776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999776T>C , CM000670.2:g.126999776T>C	GRCh38
NC_000008.10:g.128012021T>C , CM000670.1:g.128012021T>C	GRCh37
NC_000008.9:g.128081203T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1301-6779T>C