Linked Data
ClinVar Variation Id:
1632243
ClinVar RCV Id:
RCV002128270
dbSNP Id:
rs528942632
ExAC:
10:85962892 C / G
gnomAD v2:
10-85962892-C-G
gnomAD v3:
10-84203136-C-G
gnomAD v4:
10-84203136-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84203136C>G , CM000672.2:g.84203136C>G | GRCh38 |
| NC_000010.10:g.85962892C>G , CM000672.1:g.85962892C>G | GRCh37 |
| NC_000010.9:g.85952872C>G | NCBI36 |
| NG_028034.1:g.13481C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.783+13C>G MANE Select | ENSP00000485478.1:n.783+13C>G | |
| ENST00000332904.7:c.783+13C>G | ENSP00000331063.3:n.783+13C>G | |
| ENST00000372117.6:c.163+13C>G | ||
| ENST00000623527.3:c.783+13C>G | ENSP00000485478.1:n.783+13C>G | |
| NM_001171971.2:c.783+13C>G | NP_001165442.1:n.783+13C>G | |
| NM_033100.3:c.783+13C>G | NP_149091.1:n.783+13C>G | |
| XM_011540337.1:c.957+13C>G | XP_011538639.1:n.957+13C>G | |
| XM_011540338.1:c.957+13C>G | XP_011538640.1:n.957+13C>G | |
| XM_011540339.1:c.404+13C>G | XP_011538641.1:n.404+13C>G | |
| XM_011540340.1:c.957+13C>G | XP_011538642.1:n.957+13C>G | |
| XM_011540340.3:c.957+13C>G | XP_011538642.1:n.957+13C>G | |
| NM_033100.4:c.783+13C>G MANE Select | NP_149091.1:n.783+13C>G | |
| NM_001171971.3:c.783+13C>G | NP_001165442.1:n.783+13C>G |