Canonical Allele Identifier: CA2561837422

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42430232T>C , CM000679.2:g.42430232T>C	GRCh38
NC_000017.10:g.40582250T>C , CM000679.1:g.40582250T>C	GRCh37
NC_000017.9:g.37835776T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_934762.1:n.505+5170T>C
XR_934763.1:n.423+5170T>C
XR_934765.1:n.255+5170T>C
XR_001752890.2:n.326+5170T>C
XR_002958124.1:n.382-6034T>C
XR_934762.2:n.553+5170T>C
XR_934765.2:n.257+5170T>C