Canonical Allele Identifier: CA1573950053
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.113694467G>C , CM000667.2:g.113694467G>C GRCh38
NC_000005.9:g.113030164G>C , CM000667.1:g.113030164G>C GRCh37
NC_000005.8:g.113058063G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742840.1:n.152+3313G>C
XR_001742841.1:n.156-612G>C