Canonical Allele Identifier: CA1251744797
Gene:

Linked Data

dbSNP Id: rs6752877

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.54434432G>C , CM000664.2:g.54434432G>C GRCh38
NC_000002.11:g.54661569G>C , CM000664.1:g.54661569G>C GRCh37
NC_000002.10:g.54515073G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940094.1:n.36+452G>C
XR_940095.1:n.36+452G>C
XR_001739475.1:n.1266+452G>C
XR_940094.2:n.39+452G>C