Canonical Allele Identifier: CA156111464
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30911505G>A , CM000669.2:g.30911505G>A GRCh38
NC_000007.13:g.30951120G>A , CM000669.1:g.30951120G>A GRCh37
NC_000007.12:g.30917645G>A NCBI36
NG_007475.2:g.63112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.622-488G>A