Canonical Allele Identifier: CA275447097
Gene:

Linked Data

dbSNP Id: rs8038749

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.99817258G>C , CM000677.2:g.99817258G>C GRCh38
NC_000015.9:g.100357463G>C , CM000677.1:g.100357463G>C GRCh37
NC_000015.8:g.98174986G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_932717.1:n.408+4172G>C
XR_932718.1:n.408+4172G>C
XR_932719.1:n.514+8956G>C
XR_932720.1:n.409-1680G>C
NR_135737.1:n.346+4172G>C