Canonical Allele Identifier: CA2327853203
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.21483408C>A , CM000681.2:g.21483408C>A GRCh38
NC_000019.9:g.21666210C>A , CM000681.1:g.21666210C>A GRCh37
NC_000019.8:g.21458050C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000600810.1:c.197-6257C>A ENSP00000473166.1:n.197-6257C>A