Canonical Allele Identifier: CA2548494441
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554146C>T , CM000666.2:g.74554146C>T GRCh38
NC_000004.11:g.75419863C>T , CM000666.1:g.75419863C>T GRCh37
NC_000004.10:g.75638727C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1314G>A