Canonical Allele Identifier:
CA2221608991
Gene:
Linked Data
dbSNP Id:
rs1239560349
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50109055G>C , CM000678.2:g.50109055G>C | GRCh38 |
| NC_000016.9:g.50142966G>C , CM000678.1:g.50142966G>C | GRCh37 |
| NC_000016.8:g.48700467G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011523490.1:c.115-2403C>G | XP_011521792.1:n.115-2403C>G |