Canonical Allele Identifier: CA2824362013
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2818549G>A , CM000686.2:g.2818549G>A GRCh38
NC_000024.9:g.2686590G>A , CM000686.1:g.2686590G>A GRCh37
NC_000024.8:g.2746590G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.107-22937G>A
ENST00000681787.1:n.107-22479G>A
ENST00000681940.1:n.107-27097G>A