Canonical Allele Identifier: CA2768360834

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.129386869T>C , CM000667.2:g.129386869T>C	GRCh38
NC_000005.9:g.128722562T>C , CM000667.1:g.128722562T>C	GRCh37
NC_000005.8:g.128750461T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_427770.2:n.163-1579T>C
XR_948774.1:n.235-5782T>C
XR_001742463.1:n.4089-1579T>C
XR_001742464.1:n.2019-5782T>C
XR_001742465.1:n.401-1579T>C
XR_427770.3:n.337-1579T>C