Canonical Allele Identifier: CA1847397168
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38456368G= , CM000671.2:g.38456368G= GRCh38
NC_000009.11:g.38456365G= , CM000671.1:g.38456365G= GRCh37
NC_000009.10:g.38446365G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635962.1:n.647+175G=
ENST00000636076.1:n.76+175G=
ENST00000637760.1:n.649+175G=
ENST00000637760.2:n.649+175G=
ENST00000685989.1:n.647+175G=