Canonical Allele Identifier: CA1021127319
Gene:

Linked Data

dbSNP Id: rs1981477724

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259291T>C , CM000683.2:g.22259291T>C GRCh38
NC_000021.8:g.23631611T>C , CM000683.1:g.23631611T>C GRCh37
NC_000021.7:g.22553482T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46478T>C