Canonical Allele Identifier: CA2061106188
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106556209G>C , CM000674.2:g.106556209G>C GRCh38
NC_000012.11:g.106949987G>C , CM000674.1:g.106949987G>C GRCh37
NC_000012.10:g.105474117G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040246.1:n.143-48399C>G