Canonical Allele Identifier: CA846959257
Gene:

Linked Data

dbSNP Id: rs1371005717

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478773T>C , CM000670.2:g.125478773T>C GRCh38
NC_000008.10:g.126491015T>C , CM000670.1:g.126491015T>C GRCh37
NC_000008.9:g.126560197T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928628.1:n.256+5459T>C