Canonical Allele Identifier: CA1147766378
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2036447G= , CM000663.2:g.2036447G= GRCh38
NC_000001.10:g.1967886G= , CM000663.1:g.1967886G= GRCh37
NC_000001.9:g.1957746G= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_946823.1:n.761C=
XR_001737845.2:n.764C=
XR_946823.3:n.764C=