Canonical Allele Identifier: CA1139810578
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160776286G= , CM000663.2:g.160776286G= GRCh38
NC_000001.10:g.160746076G= , CM000663.1:g.160746076G= GRCh37
NC_000001.9:g.159012700G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000620690.1:n.262+61C=
XR_922204.1:n.447C=
XR_922205.1:n.414+33C=
XR_922206.1:n.447C=
XR_001738267.1:n.430+33C=
XR_922205.2:n.430+33C=