Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53700754A>C , CM000676.2:g.53700754A>C | GRCh38 |
| NC_000014.8:g.54167472A>C , CM000676.1:g.54167472A>C | GRCh37 |
| NC_000014.7:g.53237222A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001750976.1:n.4375+13380A>C | |
| XR_943872.1:n.798-14146T>G | |
| XR_943872.3:n.821-14146T>G | |
| XR_943873.1:n.705-14146T>G | |
| XR_943873.2:n.728-14146T>G | |
| XR_943874.1:n.1245+2241T>G | |
| XR_943874.3:n.1272+2241T>G | |
| XR_943875.1:n.957+2241T>G | |
| XR_943876.1:n.229+13380A>C | |
| XR_943876.2:n.4375+13380A>C | |
| XR_943877.1:n.230-5599A>C | |
| XR_943877.3:n.4376-5599A>C | |
| XR_943878.1:n.229+13380A>C | |
| XR_943879.1:n.229+13380A>C | |
| XR_943879.2:n.4375+13380A>C |