Canonical Allele Identifier: CA2136398890
Gene:

Linked Data

dbSNP Id: rs2045893833

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50856941G>C , CM000676.2:g.50856941G>C GRCh38
NC_000014.8:g.51323659G>C , CM000676.1:g.51323659G>C GRCh37
NC_000014.7:g.50393409G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943848.1:n.282+1157C>G
XR_943848.2:n.643+1157C>G