Linked Data
ClinVar Variation Id:
301277
ClinVar RCV Id:
RCV000314191
dbSNP Id:
rs886047336
gnomAD v2:
10-85975215-G-T
gnomAD v3:
10-84215459-G-T
gnomAD v4:
10-84215459-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84215459G>T , CM000672.2:g.84215459G>T | GRCh38 |
| NC_000010.10:g.85975215G>T , CM000672.1:g.85975215G>T | GRCh37 |
| NC_000010.9:g.85965195G>T | NCBI36 |
| NG_028034.1:g.25804G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.*838G>T MANE Select | ENSP00000485478.1:n.*838G>T | |
| ENST00000332904.7:c.2040+2111G>T | ENSP00000331063.3:n.2040+2111G>T | |
| ENST00000372117.6:c.2633G>T | ||
| ENST00000459673.1:n.1850G>T | ||
| ENST00000623399.1:c.211+2111G>T | ||
| ENST00000623527.3:c.*838G>T | ENSP00000485478.1:n.*838G>T | |
| NM_001171971.2:c.2040+2111G>T | NP_001165442.1:n.2040+2111G>T | |
| NM_033100.3:c.*838G>T | NP_149091.1:n.*838G>T | |
| XM_011540337.1:c.*838G>T | XP_011538639.1:n.*838G>T | |
| XM_011540338.1:c.2214+2111G>T | XP_011538640.1:n.2214+2111G>T | |
| XM_011540339.1:c.*838G>T | XP_011538641.1:n.*838G>T | |
| NM_033100.4:c.*838G>T MANE Select | NP_149091.1:n.*838G>T | |
| NM_001171971.3:c.2040+2111G>T | NP_001165442.1:n.2040+2111G>T |