Canonical Allele Identifier: CA2558063171
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30911422C>A , CM000669.2:g.30911422C>A GRCh38
NC_000007.13:g.30951037C>A , CM000669.1:g.30951037C>A GRCh37
NC_000007.12:g.30917562C>A NCBI36
NG_007475.2:g.63029C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.622-571C>A