Canonical Allele Identifier: CA2718182619
Gene:

Linked Data

dbSNP Id: rs2129880927

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478433T>G , CM000670.2:g.125478433T>G GRCh38
NC_000008.10:g.126490675T>G , CM000670.1:g.126490675T>G GRCh37
NC_000008.9:g.126559857T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5119T>G