Canonical Allele Identifier: CA2842213512
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63506352T>C , CM000679.2:g.63506352T>C GRCh38
NC_000017.10:g.61583713T>C , CM000679.1:g.61583713T>C GRCh37
NC_000017.9:g.58937445T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1970-704T>C ENSP00000464149.1:n.1970-704T>C