Canonical Allele Identifier: CA2072378452
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131455375G= , CM000674.2:g.131455375G= GRCh38
NC_000012.11:g.131939920G= , CM000674.1:g.131939920G= GRCh37
NC_000012.10:g.130505873G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945562.1:n.3299C=
XR_945563.1:n.5730C=
XR_945564.1:n.3377C=
XR_001749407.2:n.3700C=
XR_001749409.2:n.3157C=
XR_945562.3:n.3489C=
XR_945563.3:n.3080C=