Canonical Allele Identifier: CA1751418970
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807205C= , CM000669.2:g.148807205C= GRCh38
NC_000007.13:g.148504297C= , CM000669.1:g.148504297C= GRCh37
NC_000007.12:g.148135230C= NCBI36
NG_032043.1:g.82145G= , LRG_531:g.82145G=

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2120C=
XR_928102.1:n.722+2120C=