Canonical Allele Identifier: CA1758307112
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.2883009T= , CM000670.2:g.2883009T= GRCh38
NC_000008.10:g.2740531T= , CM000670.1:g.2740531T= GRCh37
NC_000008.9:g.2727938T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941367.1:n.212-42756T=
NR_168441.1:n.1166+45245T=
NR_168442.1:n.1331-33326T=
NR_168443.1:n.1171+45245T=
NR_168444.1:n.1166+45245T=
NR_168445.1:n.1249+45162T=