Canonical Allele Identifier: CA318813254
Gene:

Linked Data

dbSNP Id: rs949469939

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259275T>C , CM000683.2:g.22259275T>C GRCh38
NC_000021.8:g.23631595T>C , CM000683.1:g.23631595T>C GRCh37
NC_000021.7:g.22553466T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46462T>C