Canonical Allele Identifier: CA2502029475
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578013A>G , CM000666.2:g.12578013A>G GRCh38
NC_000004.11:g.12579637A>G , CM000666.1:g.12579637A>G GRCh37
NC_000004.10:g.12188735A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+31329T>C
XR_001741374.1:n.254+44642T>C
XR_925406.3:n.140+31329T>C