Canonical Allele Identifier:
CA2327233081
Gene:
Linked Data
dbSNP Id:
rs2090126850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.20217999T>C , CM000681.2:g.20217999T>C | GRCh38 |
| NC_000019.9:g.20328808T>C , CM000681.1:g.20328808T>C | GRCh37 |
| NC_000019.8:g.20189808T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936388.1:n.619-683A>G | ||
| XR_936389.1:n.502-683A>G | ||
| XR_936390.1:n.511-683A>G | ||
| XR_936391.1:n.514-683A>G | ||
| XR_936392.1:n.514-683A>G | ||
| XR_936394.1:n.41-735T>C | ||
| XR_001754063.2:n.1506-683A>G | ||
| XR_001754064.2:n.138-683A>G | ||
| XR_001754066.1:n.3912-683A>G | ||
| XR_001754067.1:n.3912-683A>G | ||
| XR_001754068.1:n.3912-683A>G | ||
| XR_936394.2:n.41-735T>C | ||
| XR_936406.2:n.1411-683A>G |