Canonical Allele Identifier: CA2341104132
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837365C= , CM000681.2:g.50837365C= GRCh38
NC_000019.9:g.51340621C= , CM000681.1:g.51340621C= GRCh37
NC_000019.8:g.56032433C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+6072C=
NR_131205.1:n.230+6072C=
XR_936030.1:n.298+6072C=
XR_936031.1:n.298+6072C=
XR_936032.1:n.298+6072C=
XR_936033.1:n.294+6072C=
XR_936035.1:n.281+6072C=