Canonical Allele Identifier: CA2749087032
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20485664C>A , CM000664.2:g.20485664C>A GRCh38
NC_000002.11:g.20685425C>A , CM000664.1:g.20685425C>A GRCh37
NC_000002.10:g.20548906C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_157978.1:n.530+3074G>T