Canonical Allele Identifier: CA1697889713
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897504C= , CM000669.2:g.30897504C= GRCh38
NC_000007.13:g.30937119C= , CM000669.1:g.30937119C= GRCh37
NC_000007.12:g.30903644C= NCBI36
NG_007475.2:g.49111C=

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-14489C=