Canonical Allele Identifier: CA1751418979
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807212G= , CM000669.2:g.148807212G= GRCh38
NC_000007.13:g.148504304G= , CM000669.1:g.148504304G= GRCh37
NC_000007.12:g.148135237G= NCBI36
NG_032043.1:g.82138C= , LRG_531:g.82138C=

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2127G=
XR_928102.1:n.722+2127G=