Canonical Allele Identifier: CA2047190504
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76004968T= , CM000674.2:g.76004968T= GRCh38
NC_000012.11:g.76398748T= , CM000674.1:g.76398748T= GRCh37
NC_000012.10:g.74685015T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945110.1:n.311+1221A=
XR_001749218.2:n.402+1221A=
XR_945110.3:n.402+1221A=