Canonical Allele Identifier: CA2221132859
Gene:

Linked Data

dbSNP Id: rs1961469232

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108735G>C , CM000678.2:g.49108735G>C GRCh38
NC_000016.9:g.49142646G>C , CM000678.1:g.49142646G>C GRCh37
NC_000016.8:g.47700147G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1209C>G
XR_001752138.2:n.591+5241C>G
XR_933517.2:n.810+1209C>G