mvTools is updated to latest version of MitoMaps, HmtDB and ClinVar Data
The data is current to May 2017.
MSeqDR already has a mvTool for mtDNA variant reference genome conversion and format conversions, and annotations including VEP, Mitomap, MSeqDR data and dbNSFP (latest v3.4a). https://mseqdr.org/mv.php
Users may input variants using one of the 7 red formats below, including position only query. And different formats can be mixed as input:
| HGVS_Committee | m.3054G>A |
| HGVS_ClinVarNCBI | NC_012920.1:m.3054G>A |
| HGVS_Ensembl | MT:g.3054G>A |
| HGVS_Mutalyzer | NC_012920.1:g.3054G>A |
| VCF | |
| Variant | 3054A |
| Position | 3054 |
Sample input:
| #Sample input of a mixture of multiple mtDNA variant nomenclatures: |
| m.8993T>G |
| 8993G |
| T8993G |
| 3054A |
| 3066G |
| 15951G |
| 15956C |
| 16205T |
| 16209A |
| chrMT.6328C>T |
| m.13513G>A |
