Canonical Allele Identifier: CA2767150101
Gene:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549935G>C , CM000667.2:g.79549935G>C GRCh38
NC_000005.9:g.78845758G>C , CM000667.1:g.78845758G>C GRCh37
NC_000005.8:g.78881514G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2291G>C
XR_948498.1:n.159+2098G>C
XR_948499.1:n.67+1633G>C
XR_948497.2:n.72+2291G>C
XR_948498.2:n.159+2098G>C
XR_948499.2:n.225+1633G>C
Search 100 bp 5'
Search 100 bp 3'