Canonical Allele Identifier:
CA2503823341
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.129387073G>C , CM000667.2:g.129387073G>C | GRCh38 |
| NC_000005.9:g.128722766G>C , CM000667.1:g.128722766G>C | GRCh37 |
| NC_000005.8:g.128750665G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_427770.2:n.163-1375G>C | ||
| XR_948774.1:n.235-5578G>C | ||
| XR_001742463.1:n.4089-1375G>C | ||
| XR_001742464.1:n.2019-5578G>C | ||
| XR_001742465.1:n.401-1375G>C | ||
| XR_427770.3:n.337-1375G>C |