Canonical Allele Identifier: CA1751418997
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807234A= , CM000669.2:g.148807234A= GRCh38
NC_000007.13:g.148504326A= , CM000669.1:g.148504326A= GRCh37
NC_000007.12:g.148135259A= NCBI36
NG_032043.1:g.82116T= , LRG_531:g.82116T=

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2149A=
XR_928102.1:n.722+2149A=