Canonical Allele Identifier:
CA2320960034
Gene:
Linked Data
dbSNP Id:
rs1247635254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7522599G>A , CM000681.2:g.7522599G>A | GRCh38 |
| NC_000019.9:g.7587485G>A , CM000681.1:g.7587485G>A | GRCh37 |
| NC_000019.8:g.7493485G>A | NCBI36 |
| NG_015806.1:g.4990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936293.1:n.926+243C>T | ||
| XR_936294.1:n.926+243C>T | ||
| XR_936295.1:n.570+243C>T | ||
| XR_936293.2:n.952+243C>T | ||
| XR_936294.2:n.952+243C>T |