Linked Data
ClinVar Variation Id:
3036193
ClinVar RCV Id:
RCV003904554
dbSNP Id:
rs971007674
gnomAD v2:
16-88798949-G-A
gnomAD v4:
16-88732541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88732541G>A , CM000678.2:g.88732541G>A | GRCh38 |
| NC_000016.9:g.88798949G>A , CM000678.1:g.88798949G>A | GRCh37 |
| NC_000016.8:g.87326450G>A | NCBI36 |
| NG_042229.1:g.57680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2791-6C>T (PIEZO1) MANE Select | ENSP00000301015.9:n.2791-6C>T | |
| ENST00000301015.13:c.2791-6C>T (PIEZO1) | ENSP00000301015.9:n.2791-6C>T | |
| ENST00000490756.1:n.375-6C>T (PIEZO1) | ||
| NM_001142864.2:c.2791-6C>T (PIEZO1) | NP_001136336.2:n.2791-6C>T | |
| NM_001142864.3:c.2791-6C>T (PIEZO1) | NP_001136336.2:n.2791-6C>T | |
| NR_103774.1:n.269+1093G>A (HSALR1) | ||
| NM_001142864.4:c.2791-6C>T (PIEZO1) MANE Select | NP_001136336.2:n.2791-6C>T |