Canonical Allele Identifier: CA2766276216

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7680703G>T , CM000686.2:g.7680703G>T	GRCh38
NC_000024.9:g.7548744G>T , CM000686.1:g.7548744G>T	GRCh37
NC_000024.8:g.7608744G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439805.1:n.472-17G>T