Canonical Allele Identifier: CA837538765
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897563T>A , CM000669.2:g.30897563T>A GRCh38
NC_000007.13:g.30937178T>A , CM000669.1:g.30937178T>A GRCh37
NC_000007.12:g.30903703T>A NCBI36
NG_007475.2:g.49170T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.622-14430T>A