Canonical Allele Identifier: CA1751418987
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807221C= , CM000669.2:g.148807221C= GRCh38
NC_000007.13:g.148504313C= , CM000669.1:g.148504313C= GRCh37
NC_000007.12:g.148135246C= NCBI36
NG_032043.1:g.82129G= , LRG_531:g.82129G=

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2136C=
XR_928102.1:n.722+2136C=