Canonical Allele Identifier:
CA2221609000
Gene:
Linked Data
dbSNP Id:
rs2037534449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50109069C>G , CM000678.2:g.50109069C>G | GRCh38 |
| NC_000016.9:g.50142980C>G , CM000678.1:g.50142980C>G | GRCh37 |
| NC_000016.8:g.48700481C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011523490.1:c.115-2417G>C | XP_011521792.1:n.115-2417G>C |