Canonical Allele Identifier: CA2842213513
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63506363G>A , CM000679.2:g.63506363G>A GRCh38
NC_000017.10:g.61583724G>A , CM000679.1:g.61583724G>A GRCh37
NC_000017.9:g.58937456G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1970-693G>A ENSP00000464149.1:n.1970-693G>A