Canonical Allele Identifier: CA2231320373
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.71600908A>C , CM000678.2:g.71600908A>C GRCh38
NC_000016.9:g.71634811A>C , CM000678.1:g.71634811A>C GRCh37
NC_000016.8:g.70192312A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933717.1:n.231+10866T>G
XR_933717.2:n.239+10866T>G