Canonical Allele Identifier: CA2774907911
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30911648G>A , CM000669.2:g.30911648G>A GRCh38
NC_000007.13:g.30951263G>A , CM000669.1:g.30951263G>A GRCh37
NC_000007.12:g.30917788G>A NCBI36
NG_007475.2:g.63255G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509504.2:c.622-345G>A