Canonical Allele Identifier: CA280996478

Gene:

Linked Data

• dbSNP Id: rs973003606
• gnomAD v2: 16-49142657-T-C
• gnomAD v3: 16-49108746-T-C
• gnomAD v4: 16-49108746-T-C
• MyVariant Identifiers: chr16:g.49142657T>C (hg19) ; chr16:g.49108746T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108746T>C , CM000678.2:g.49108746T>C	GRCh38
NC_000016.9:g.49142657T>C , CM000678.1:g.49142657T>C	GRCh37
NC_000016.8:g.47700158T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1198A>G
XR_001752138.2:n.591+5230A>G
XR_933517.2:n.810+1198A>G