Canonical Allele Identifier: CA249517030
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.43900381G>T , CM000675.2:g.43900381G>T GRCh38
NC_000013.10:g.44474517G>T , CM000675.1:g.44474517G>T GRCh37
NC_000013.9:g.43372517G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000627615.1:c.757-6499G>T