Linked Data
ClinVar Variation Id:
3212657
ClinVar RCV Id:
RCV004503577
dbSNP Id:
rs1347920374
gnomAD v2:
16-88798891-C-T
gnomAD v3:
16-88732483-C-T
gnomAD v4:
16-88732483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88732483C>T , CM000678.2:g.88732483C>T | GRCh38 |
| NC_000016.9:g.88798891C>T , CM000678.1:g.88798891C>T | GRCh37 |
| NC_000016.8:g.87326392C>T | NCBI36 |
| NG_042229.1:g.57738G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2843G>A (PIEZO1) MANE Select | ENSP00000301015.9:p.Arg948His | |
| ENST00000301015.13:c.2843G>A (PIEZO1) | ENSP00000301015.9:p.Arg948His | |
| ENST00000490756.1:n.427G>A (PIEZO1) | ||
| NM_001142864.2:c.2843G>A (PIEZO1) | NP_001136336.2:p.Arg948His | |
| NM_001142864.3:c.2843G>A (PIEZO1) | NP_001136336.2:p.Arg948His | |
| NR_103774.1:n.269+1035C>T (HSALR1) | ||
| NM_001142864.4:c.2843G>A (PIEZO1) MANE Select | NP_001136336.2:p.Arg948His |