Canonical Allele Identifier: CA1751419004
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807248T= , CM000669.2:g.148807248T= GRCh38
NC_000007.13:g.148504340T= , CM000669.1:g.148504340T= GRCh37
NC_000007.12:g.148135273T= NCBI36
NG_032043.1:g.82102A= , LRG_531:g.82102A=

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2163T=
XR_928102.1:n.722+2163T=