Canonical Allele Identifier: CA846959056
Gene:

Linked Data

dbSNP Id: rs1443214416

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478447G>C , CM000670.2:g.125478447G>C GRCh38
NC_000008.10:g.126490689G>C , CM000670.1:g.126490689G>C GRCh37
NC_000008.9:g.126559871G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5133G>C