Canonical Allele Identifier: CA1697903929
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30911507C= , CM000669.2:g.30911507C= GRCh38
NC_000007.13:g.30951122C= , CM000669.1:g.30951122C= GRCh37
NC_000007.12:g.30917647C= NCBI36
NG_007475.2:g.63114C=

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-486C=