Canonical Allele Identifier: CA1140287753
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8923596G= , CM000663.2:g.8923596G= GRCh38
NC_000001.10:g.8983655G= , CM000663.1:g.8983655G= GRCh37
NC_000001.9:g.8906242G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_946938.1:n.52+3211C=
XR_946939.1:n.52+3211C=
XR_946940.1:n.52+3211C=
XR_002958527.1:n.518+3211C=
XR_002958529.1:n.1836+1366C=
XR_002958530.1:n.547C=
XR_002958531.1:n.524+3211C=
XR_002958532.1:n.501+3211C=