Canonical Allele Identifier: CA2470007421
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707779C= , CM000686.2:g.8707779C= GRCh38
NC_000024.9:g.8575820C= , CM000686.1:g.8575820C= GRCh37
NC_000024.8:g.8635820C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.139+8747C= ENSP00000485446.1:n.139+8747C=
ENST00000624593.1:c.-57+40937G= ENSP00000485106.1:n.-57+40937G=