Canonical Allele Identifier: CA3002196680
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762621G>A , CM000672.2:g.94762621G>A GRCh38
NC_000010.10:g.96522378G>A , CM000672.1:g.96522378G>A GRCh37
NC_000010.9:g.96512368G>A NCBI36
NG_008384.2:g.4916G>A
NG_008384.3:g.4941G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000464755.1:c.932-12437G>A ENSP00000483243.1:n.932-12437G>A