Canonical Allele Identifier: CA1697889718
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897508C= , CM000669.2:g.30897508C= GRCh38
NC_000007.13:g.30937123C= , CM000669.1:g.30937123C= GRCh37
NC_000007.12:g.30903648C= NCBI36
NG_007475.2:g.49115C=

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-14485C=