Canonical Allele Identifier: CA280996485

Gene:

Linked Data

• dbSNP Id: rs561024637
• gnomAD v2: 16-49142681-C-T
• gnomAD v3: 16-49108770-C-T
• gnomAD v4: 16-49108770-C-T
• MyVariant Identifiers: chr16:g.49142681C>T (hg19) ; chr16:g.49108770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108770C>T , CM000678.2:g.49108770C>T	GRCh38
NC_000016.9:g.49142681C>T , CM000678.1:g.49142681C>T	GRCh37
NC_000016.8:g.47700182C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1174G>A
XR_001752138.2:n.591+5206G>A
XR_933517.2:n.810+1174G>A