Canonical Allele Identifier:
CA2813890494
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.20217893A>C , CM000681.2:g.20217893A>C | GRCh38 |
| NC_000019.9:g.20328702A>C , CM000681.1:g.20328702A>C | GRCh37 |
| NC_000019.8:g.20189702A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936388.1:n.619-577T>G | ||
| XR_936389.1:n.502-577T>G | ||
| XR_936390.1:n.511-577T>G | ||
| XR_936391.1:n.514-577T>G | ||
| XR_936392.1:n.514-577T>G | ||
| XR_936394.1:n.41-841A>C | ||
| XR_001754063.2:n.1506-577T>G | ||
| XR_001754064.2:n.138-577T>G | ||
| XR_001754066.1:n.3912-577T>G | ||
| XR_001754067.1:n.3912-577T>G | ||
| XR_001754068.1:n.3912-577T>G | ||
| XR_936394.2:n.41-841A>C | ||
| XR_936406.2:n.1411-577T>G |