Canonical Allele Identifier: CA2555373376
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578149T>G , CM000666.2:g.12578149T>G GRCh38
NC_000004.11:g.12579773T>G , CM000666.1:g.12579773T>G GRCh37
NC_000004.10:g.12188871T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31193A>C
XR_001741374.1:n.254+44506A>C
XR_925406.3:n.140+31193A>C