Canonical Allele Identifier: CA2063467527
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111757172T= , CM000674.2:g.111757172T= GRCh38
NC_000012.11:g.112194976T= , CM000674.1:g.112194976T= GRCh37
NC_000012.10:g.110679359T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000546840.2:c.99+1427T= ENSP00000450353.3:n.99+1427T=
ENST00000546840.3:c.104+1427T=