Canonical Allele Identifier:
CA2320960039
Gene:
Linked Data
dbSNP Id:
rs563520447
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7522601C>G , CM000681.2:g.7522601C>G | GRCh38 |
| NC_000019.9:g.7587487C>G , CM000681.1:g.7587487C>G | GRCh37 |
| NC_000019.8:g.7493487C>G | NCBI36 |
| NG_015806.1:g.4992C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936293.1:n.926+241G>C | ||
| XR_936294.1:n.926+241G>C | ||
| XR_936295.1:n.570+241G>C | ||
| XR_936293.2:n.952+241G>C | ||
| XR_936294.2:n.952+241G>C |