UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
9563
dbSNP Id:
rs199474818
MyVariant Identifiers:
chrMT:g.7445A>G (hg38)
PubMed:
PMID:127819
PMID:6213205
PMID:7219534
PMID:7987332
PMID:8019558
PMID:8572257
PMID:9450881
PMID:9742104
PMID:11069477
PMID:11175301
PMID:20301595
ERepo:
CA120547/MONDO:0044970/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.7445A>G , J01415.2:m.7445A>G | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361624.2:c.1542A>G | ENSP00000354499.2:p.Arg514= |