Canonical Allele Identifier: CA1751418995
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807231C= , CM000669.2:g.148807231C= GRCh38
NC_000007.13:g.148504323C= , CM000669.1:g.148504323C= GRCh37
NC_000007.12:g.148135256C= NCBI36
NG_032043.1:g.82119G= , LRG_531:g.82119G=

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2146C=
XR_928102.1:n.722+2146C=