Canonical Allele Identifier: CA2381739147
Gene:

Linked Data

dbSNP Id: rs1981478315

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259304C>T , CM000683.2:g.22259304C>T GRCh38
NC_000021.8:g.23631624C>T , CM000683.1:g.23631624C>T GRCh37
NC_000021.7:g.22553495C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46491C>T