Linked Data
ClinVar Variation Id:
301265
ClinVar RCV Id:
RCV000280764
dbSNP Id:
rs886047331
gnomAD v4:
10-84214863-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84214863T>G , CM000672.2:g.84214863T>G | GRCh38 |
| NC_000010.10:g.85974619T>G , CM000672.1:g.85974619T>G | GRCh37 |
| NC_000010.9:g.85964599T>G | NCBI36 |
| NG_028034.1:g.25208T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.*242T>G MANE Select | ENSP00000485478.1:n.*242T>G | |
| ENST00000332904.7:c.2040+1515T>G | ENSP00000331063.3:n.2040+1515T>G | |
| ENST00000372117.6:c.2037T>G | ||
| ENST00000459673.1:n.1254T>G | ||
| ENST00000623399.1:c.211+1515T>G | ||
| ENST00000623527.3:c.*242T>G | ENSP00000485478.1:n.*242T>G | |
| NM_001171971.2:c.2040+1515T>G | NP_001165442.1:n.2040+1515T>G | |
| NM_033100.3:c.*242T>G | NP_149091.1:n.*242T>G | |
| XM_011540337.1:c.*242T>G | XP_011538639.1:n.*242T>G | |
| XM_011540338.1:c.2214+1515T>G | XP_011538640.1:n.2214+1515T>G | |
| XM_011540339.1:c.*242T>G | XP_011538641.1:n.*242T>G | |
| NM_033100.4:c.*242T>G MANE Select | NP_149091.1:n.*242T>G | |
| NM_001171971.3:c.2040+1515T>G | NP_001165442.1:n.2040+1515T>G |