Canonical Allele Identifier: CA2838253675
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87129010G>T , CM000667.2:g.87129010G>T GRCh38
NC_000005.9:g.86424827G>T , CM000667.1:g.86424827G>T GRCh37
NC_000005.8:g.86460583G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_105018.1:n.48-8444G>T