Canonical Allele Identifier: CA275447088
Gene:

Linked Data

dbSNP Id: rs1823874

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.99817230T>C , CM000677.2:g.99817230T>C GRCh38
NC_000015.9:g.100357435T>C , CM000677.1:g.100357435T>C GRCh37
NC_000015.8:g.98174958T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_932717.1:n.408+4144T>C
XR_932718.1:n.408+4144T>C
XR_932719.1:n.514+8928T>C
XR_932720.1:n.409-1708T>C
NR_135737.1:n.346+4144T>C