Canonical Allele Identifier: CA2581001178
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34759389T>G , CM000673.2:g.34759389T>G GRCh38
NC_000011.9:g.34780936T>G , CM000673.1:g.34780936T>G GRCh37
NC_000011.8:g.34737512T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_428897.2:n.579+4782T>G
XR_931188.1:n.693+4782T>G
XR_931189.1:n.854+4782T>G
XR_931190.1:n.639+4782T>G
XR_931191.1:n.689+4782T>G
XR_001748174.1:n.855+4782T>G
XR_001748176.1:n.1016+4782T>G
XR_002957246.1:n.639+4782T>G