Linked Data
ClinVar Variation Id:
438117
dbSNP Id:
rs1477733493
gnomAD v2:
10-85971445-T-G
gnomAD v4:
10-84211689-T-G
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84211689T>G , CM000672.2:g.84211689T>G | GRCh38 |
| NC_000010.10:g.85971445T>G , CM000672.1:g.85971445T>G | GRCh37 |
| NC_000010.9:g.85961425T>G | NCBI36 |
| NG_028034.1:g.22034T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.1527T>G MANE Select | ENSP00000485478.1:p.Tyr509Ter | |
| ENST00000332904.7:c.1527T>G | ENSP00000331063.3:p.Tyr509Ter | |
| ENST00000372117.6:c.742T>G | ||
| ENST00000622973.1:c.260T>G | ||
| ENST00000623527.3:c.1527T>G | ENSP00000485478.1:p.Tyr509Ter | |
| NM_001171971.2:c.1527T>G | NP_001165442.1:p.Tyr509Ter | |
| NM_033100.3:c.1527T>G | NP_149091.1:p.Tyr509Ter | |
| XM_011540337.1:c.1701T>G | XP_011538639.1:p.Tyr567Ter | |
| XM_011540338.1:c.1701T>G | XP_011538640.1:p.Tyr567Ter | |
| XM_011540339.1:c.1080T>G | XP_011538641.1:p.Tyr360Ter | |
| XM_011540340.1:c.1701T>G | XP_011538642.1:p.Tyr567Ter | |
| XM_011540340.3:c.1701T>G | XP_011538642.1:p.Tyr567Ter | |
| NM_033100.4:c.1527T>G MANE Select | NP_149091.1:p.Tyr509Ter | |
| NM_001171971.3:c.1527T>G | NP_001165442.1:p.Tyr509Ter |