Canonical Allele Identifier: CA280996482

Gene:

Linked Data

• dbSNP Id: rs958518712
• gnomAD v2: 16-49142674-C-G
• gnomAD v3: 16-49108763-C-G
• gnomAD v4: 16-49108763-C-G
• MyVariant Identifiers: chr16:g.49142674C>G (hg19) ; chr16:g.49108763C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108763C>G , CM000678.2:g.49108763C>G	GRCh38
NC_000016.9:g.49142674C>G , CM000678.1:g.49142674C>G	GRCh37
NC_000016.8:g.47700175C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1181G>C
XR_001752138.2:n.591+5213G>C
XR_933517.2:n.810+1181G>C