Canonical Allele Identifier: CA802120513

Gene:

Linked Data

• dbSNP Id: rs1446411648
• gnomAD v3: 5-113661180-T-C
• gnomAD v4: 5-113661180-T-C
• MyVariant Identifiers: chr5:g.112996877T>C (hg19) ; chr5:g.113661180T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113661180T>C , CM000667.2:g.113661180T>C	GRCh38
NC_000005.9:g.112996877T>C , CM000667.1:g.112996877T>C	GRCh37
NC_000005.8:g.113024776T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27816T>C