Canonical Allele Identifier: CA2581539222
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169567G>T , CM000668.2:g.8169567G>T GRCh38
NC_000006.11:g.8169800G>T , CM000668.1:g.8169800G>T GRCh37
NC_000006.10:g.8114799G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11307G>T
XR_926441.1:n.189+1647G>T
XR_926442.1:n.82+11307G>T
XR_926443.1:n.82+11307G>T
XR_001743950.1:n.179+1647G>T
XR_926440.2:n.74+11307G>T
XR_926441.2:n.179+1647G>T
XR_926443.2:n.83+11307G>T