Canonical Allele Identifier: CA2814053394
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.28544752C>T , CM000681.2:g.28544752C>T GRCh38
NC_000019.9:g.29035659C>T , CM000681.1:g.29035659C>T GRCh37
NC_000019.8:g.33727499C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110759.1:n.657-77972G>A
XR_243979.1:n.110-51729G>A