Canonical Allele Identifier: CA1140439179
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.178502087C= , CM000663.2:g.178502087C= GRCh38
NC_000001.10:g.178471222C= , CM000663.1:g.178471222C= GRCh37
NC_000001.9:g.176737845C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001738305.1:n.1247-546G=
XR_001738306.1:n.1245-546G=
XR_001738307.1:n.933-546G=
XR_922305.2:n.1250-546G=