Canonical Allele Identifier: CA1751418966
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807203A= , CM000669.2:g.148807203A= GRCh38
NC_000007.13:g.148504295A= , CM000669.1:g.148504295A= GRCh37
NC_000007.12:g.148135228A= NCBI36
NG_032043.1:g.82147T= , LRG_531:g.82147T=

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2118A=
XR_928102.1:n.722+2118A=