Canonical Allele Identifier: CA1502599179
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649519G= , CM000666.2:g.148649519G= GRCh38
NC_000004.11:g.149570671G= , CM000666.1:g.149570671G= GRCh37
NC_000004.10:g.149790121G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939336.1:n.437-30651C=
XR_001741441.1:n.1745+104935G=
XR_939336.3:n.2921-30651C=