Canonical Allele Identifier: CA2122202196
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793474C= , CM000676.2:g.20793474C= GRCh38
NC_000014.8:g.21261633C= , CM000676.1:g.21261633C= GRCh37
NC_000014.7:g.20331473C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943584.1:n.585+688C=
XR_943585.1:n.585+688C=
XR_001750620.1:n.3271+688C=
XR_001750621.1:n.3271+688C=
XR_001750622.1:n.637+6430G=
XR_001750623.1:n.637+6430G=
XR_001750624.1:n.637+6430G=