Canonical Allele Identifier: CA2580810983
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31317314T>G , CM000670.2:g.31317314T>G GRCh38
NC_000008.10:g.31174830T>G , CM000670.1:g.31174830T>G GRCh37
NC_000008.9:g.31294372T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_247155.2:n.226+41506T>G
XR_949649.1:n.226+41506T>G
XR_949649.2:n.244+41506T>G