Linked Data
ClinVar Variation Id:
301299
ClinVar RCV Id:
RCV000267783
dbSNP Id:
rs750723702
gnomAD v3:
10-84216440-C-T
gnomAD v4:
10-84216440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84216440C>T , CM000672.2:g.84216440C>T | GRCh38 |
| NC_000010.10:g.85976196C>T , CM000672.1:g.85976196C>T | GRCh37 |
| NC_000010.9:g.85966176C>T | NCBI36 |
| NG_028034.1:g.26785C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.*1819C>T MANE Select | ENSP00000485478.1:n.*1819C>T | |
| ENST00000332904.7:c.2041-2639C>T | ENSP00000331063.3:n.2041-2639C>T | |
| ENST00000372117.6:c.3614C>T | ||
| ENST00000459673.1:n.2831C>T | ||
| ENST00000623399.1:c.212-2639C>T | ||
| ENST00000623527.3:c.*1819C>T | ENSP00000485478.1:n.*1819C>T | |
| NM_001171971.2:c.2041-2639C>T | NP_001165442.1:n.2041-2639C>T | |
| NM_033100.3:c.*1819C>T | NP_149091.1:n.*1819C>T | |
| XM_011540337.1:c.*1819C>T | XP_011538639.1:n.*1819C>T | |
| XM_011540338.1:c.2215-2639C>T | XP_011538640.1:n.2215-2639C>T | |
| XM_011540339.1:c.*1819C>T | XP_011538641.1:n.*1819C>T | |
| NM_033100.4:c.*1819C>T MANE Select | NP_149091.1:n.*1819C>T | |
| NM_001171971.3:c.2041-2639C>T | NP_001165442.1:n.2041-2639C>T |