Canonical Allele Identifier: CA706619727
Gene:

Linked Data

dbSNP Id: rs1331353008

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50857005A>G , CM000676.2:g.50857005A>G GRCh38
NC_000014.8:g.51323723A>G , CM000676.1:g.51323723A>G GRCh37
NC_000014.7:g.50393473A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1093T>C
XR_943848.2:n.643+1093T>C