Canonical Allele Identifier: CA1139988289
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817341A= , CM000663.2:g.817341A= GRCh38
NC_000001.10:g.752721A= , CM000663.1:g.752721A= GRCh37
NC_000001.9:g.742584A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000634337.2:n.127+10329T=
ENST00000635509.2:n.100+10329T=
ENST00000447500.4:n.340+32T=