Canonical Allele Identifier: CA1697889668
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897407C= , CM000669.2:g.30897407C= GRCh38
NC_000007.13:g.30937022C= , CM000669.1:g.30937022C= GRCh37
NC_000007.12:g.30903547C= NCBI36
NG_007475.2:g.49014C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.621+14414C=