Canonical Allele Identifier:
CA2002576349
Gene:
Linked Data
dbSNP Id:
rs1378400833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116442708G>C , CM000673.2:g.116442708G>C | GRCh38 |
| NC_000011.9:g.116313425G>C , CM000673.1:g.116313425G>C | GRCh37 |
| NC_000011.8:g.115818635G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_001748403.1:n.349+31169C>G |