Canonical Allele Identifier: CA2224227988
Gene:

Linked Data

dbSNP Id: rs1580833

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56610738C>G , CM000678.2:g.56610738C>G GRCh38
NC_000016.9:g.56644650C>G , CM000678.1:g.56644650C>G GRCh37
NC_000016.8:g.55202151C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_933616.1:n.605+578G>C