Canonical Allele Identifier: CA846959297
Gene:

Linked Data

dbSNP Id: rs1213280498

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478872G>C , CM000670.2:g.125478872G>C GRCh38
NC_000008.10:g.126491114G>C , CM000670.1:g.126491114G>C GRCh37
NC_000008.9:g.126560296G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5558G>C