Canonical Allele Identifier: CA1139985321
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817186G= , CM000663.2:g.817186G= GRCh38
NC_000001.10:g.752566G= , CM000663.1:g.752566G= GRCh37
NC_000001.9:g.742429G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000447500.4:n.340+187C=
ENST00000634337.2:n.127+10484C=
ENST00000635509.2:n.100+10484C=