Canonical Allele Identifier:
CA2260481737
Community Standard Title: NC_000017.11:g.42438011T>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42438011T>A , CM000679.2:g.42438011T>A | GRCh38 |
| NC_000017.10:g.40590029T>A , CM000679.1:g.40590029T>A | GRCh37 |
| NC_000017.9:g.37843555T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001752890.2:n.453+1619T>A | |
| XR_002958124.1:n.508+1619T>A | |
| XR_934762.1:n.632+1619T>A | |
| XR_934762.2:n.680+1619T>A | |
| XR_934763.1:n.550+1619T>A | |
| XR_934765.1:n.382+1619T>A | |
| XR_934765.2:n.384+1619T>A |