Canonical Allele Identifier:
CA2561094294
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.20218064C>T , CM000681.2:g.20218064C>T | GRCh38 |
| NC_000019.9:g.20328873C>T , CM000681.1:g.20328873C>T | GRCh37 |
| NC_000019.8:g.20189873C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936388.1:n.619-748G>A | ||
| XR_936389.1:n.502-748G>A | ||
| XR_936390.1:n.511-748G>A | ||
| XR_936391.1:n.514-748G>A | ||
| XR_936392.1:n.514-748G>A | ||
| XR_936394.1:n.41-670C>T | ||
| XR_001754063.2:n.1506-748G>A | ||
| XR_001754064.2:n.138-748G>A | ||
| XR_001754066.1:n.3912-748G>A | ||
| XR_001754067.1:n.3912-748G>A | ||
| XR_001754068.1:n.3912-748G>A | ||
| XR_936394.2:n.41-670C>T | ||
| XR_936406.2:n.1411-748G>A |