Canonical Allele Identifier: CA2598754228
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.96104564T>G , CM000677.2:g.96104564T>G GRCh38
NC_000015.9:g.96647793T>G , CM000677.1:g.96647793T>G GRCh37
NC_000015.8:g.94448797T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_932658.1:n.314-406A>C
NR_158193.1:n.1087-406A>C
XR_001751686.2:n.138-406A>C
XR_002957737.1:n.450+113680T>G