Canonical Allele Identifier: CA1774300395
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31540605G>C , CM000670.2:g.31540605G>C GRCh38
NC_000008.10:g.31398121G>C , CM000670.1:g.31398121G>C GRCh37
NC_000008.9:g.31517663G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949650.1:n.1528+449G>C
XR_001745704.1:n.1168+449G>C