Canonical Allele Identifier: CA78904916
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.86206522T>C , CM000665.2:g.86206522T>C GRCh38
NC_000003.11:g.86255672T>C , CM000665.1:g.86255672T>C GRCh37
NC_000003.10:g.86338362T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427356.2:n.681-589A>G
XR_941024.1:n.680+16182A>G
XR_941025.1:n.599-589A>G
XR_427356.4:n.715-589A>G
XR_941024.2:n.682+16182A>G
XR_941025.3:n.632-589A>G