Linked Data
ClinVar Variation Id:
301294
ClinVar RCV Id:
RCV000310957
dbSNP Id:
rs4933979
gnomAD v2:
10-85975844-T-A
gnomAD v3:
10-84216088-T-A
gnomAD v4:
10-84216088-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84216088T>A , CM000672.2:g.84216088T>A | GRCh38 |
| NC_000010.10:g.85975844T>A , CM000672.1:g.85975844T>A | GRCh37 |
| NC_000010.9:g.85965824T>A | NCBI36 |
| NG_028034.1:g.26433T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.*1467T>A MANE Select | ENSP00000485478.1:n.*1467T>A | |
| ENST00000332904.7:c.2040+2740T>A | ENSP00000331063.3:n.2040+2740T>A | |
| ENST00000372117.6:c.3262T>A | ||
| ENST00000459673.1:n.2479T>A | ||
| ENST00000623399.1:c.211+2740T>A | ||
| ENST00000623527.3:c.*1467T>A | ENSP00000485478.1:n.*1467T>A | |
| NM_001171971.2:c.2040+2740T>A | NP_001165442.1:n.2040+2740T>A | |
| NM_033100.3:c.*1467T>A | NP_149091.1:n.*1467T>A | |
| XM_011540337.1:c.*1467T>A | XP_011538639.1:n.*1467T>A | |
| XM_011540338.1:c.2214+2740T>A | XP_011538640.1:n.2214+2740T>A | |
| XM_011540339.1:c.*1467T>A | XP_011538641.1:n.*1467T>A | |
| NM_033100.4:c.*1467T>A MANE Select | NP_149091.1:n.*1467T>A | |
| NM_001171971.3:c.2040+2740T>A | NP_001165442.1:n.2040+2740T>A |