Canonical Allele Identifier: CA2580607942
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.28544649T>G , CM000681.2:g.28544649T>G GRCh38
NC_000019.9:g.29035556T>G , CM000681.1:g.29035556T>G GRCh37
NC_000019.8:g.33727396T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110759.1:n.657-77869A>C
XR_243979.1:n.110-51626A>C