Canonical Allele Identifier: CA706619711
Gene:

Linked Data

dbSNP Id: rs1220793889

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50856980C>G , CM000676.2:g.50856980C>G GRCh38
NC_000014.8:g.51323698C>G , CM000676.1:g.51323698C>G GRCh37
NC_000014.7:g.50393448C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1118G>C
XR_943848.2:n.643+1118G>C