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 |