Linked Data
ClinVar Variation Id:
301286
ClinVar RCV Id:
RCV000322505
dbSNP Id:
rs549785373
gnomAD v3:
10-84215629-A-G
gnomAD v4:
10-84215629-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84215629A>G , CM000672.2:g.84215629A>G | GRCh38 |
| NC_000010.10:g.85975385A>G , CM000672.1:g.85975385A>G | GRCh37 |
| NC_000010.9:g.85965365A>G | NCBI36 |
| NG_028034.1:g.25974A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.*1008A>G MANE Select | ENSP00000485478.1:n.*1008A>G | |
| ENST00000332904.7:c.2040+2281A>G | ENSP00000331063.3:n.2040+2281A>G | |
| ENST00000372117.6:c.2803A>G | ||
| ENST00000459673.1:n.2020A>G | ||
| ENST00000623399.1:c.211+2281A>G | ||
| ENST00000623527.3:c.*1008A>G | ENSP00000485478.1:n.*1008A>G | |
| NM_001171971.2:c.2040+2281A>G | NP_001165442.1:n.2040+2281A>G | |
| NM_033100.3:c.*1008A>G | NP_149091.1:n.*1008A>G | |
| XM_011540337.1:c.*1008A>G | XP_011538639.1:n.*1008A>G | |
| XM_011540338.1:c.2214+2281A>G | XP_011538640.1:n.2214+2281A>G | |
| XM_011540339.1:c.*1008A>G | XP_011538641.1:n.*1008A>G | |
| NM_033100.4:c.*1008A>G MANE Select | NP_149091.1:n.*1008A>G | |
| NM_001171971.3:c.2040+2281A>G | NP_001165442.1:n.2040+2281A>G |