Canonical Allele Identifier: CA2505078447
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269823C>T , CM000670.2:g.97269823C>T GRCh38
NC_000008.10:g.98282051C>T , CM000670.1:g.98282051C>T GRCh37
NC_000008.9:g.98351227C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149247G>A