Canonical Allele Identifier: CA2136398918
Gene:

Linked Data

dbSNP Id: rs2045894064

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50857009A>G , CM000676.2:g.50857009A>G GRCh38
NC_000014.8:g.51323727A>G , CM000676.1:g.51323727A>G GRCh37
NC_000014.7:g.50393477A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1089T>C
XR_943848.2:n.643+1089T>C