Canonical Allele Identifier: CA2181762283
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.61578744C>A , CM000677.2:g.61578744C>A GRCh38
NC_000015.9:g.61870943C>A , CM000677.1:g.61870943C>A GRCh37
NC_000015.8:g.59658235C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751569.1:n.240+11172G>T
XR_001751570.1:n.438+11172G>T