Canonical Allele Identifier: CA2791022850
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34759350G>T , CM000673.2:g.34759350G>T GRCh38
NC_000011.9:g.34780897G>T , CM000673.1:g.34780897G>T GRCh37
NC_000011.8:g.34737473G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_428897.2:n.579+4743G>T
XR_931188.1:n.693+4743G>T
XR_931189.1:n.854+4743G>T
XR_931190.1:n.639+4743G>T
XR_931191.1:n.689+4743G>T
XR_001748174.1:n.855+4743G>T
XR_001748176.1:n.1016+4743G>T
XR_002957246.1:n.639+4743G>T