Canonical Allele Identifier: CA1697889676
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897425C= , CM000669.2:g.30897425C= GRCh38
NC_000007.13:g.30937040C= , CM000669.1:g.30937040C= GRCh37
NC_000007.12:g.30903565C= NCBI36
NG_007475.2:g.49032C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.621+14432C=