Canonical Allele Identifier: CA12349075
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.14199916G>A , CM000668.2:g.14199916G>A GRCh38
NC_000006.11:g.14200147G>A , CM000668.1:g.14200147G>A GRCh37
NC_000006.10:g.14308126G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926501.1:n.511+714C>T
XR_926501.2:n.1665+714C>T