Linked Data
ClinVar Variation Id:
2689702
ClinVar RCV Id:
RCV003488209
dbSNP Id:
rs1216285611
gnomAD v2:
16-88798792-C-T
gnomAD v4:
16-88732384-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88732384C>T , CM000678.2:g.88732384C>T | GRCh38 |
| NC_000016.9:g.88798792C>T , CM000678.1:g.88798792C>T | GRCh37 |
| NC_000016.8:g.87326293C>T | NCBI36 |
| NG_042229.1:g.57837G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2942G>A (PIEZO1) MANE Select | ENSP00000301015.9:p.Gly981Asp | |
| ENST00000301015.13:c.2942G>A (PIEZO1) | ENSP00000301015.9:p.Gly981Asp | |
| NM_001142864.2:c.2942G>A (PIEZO1) | NP_001136336.2:p.Gly981Asp | |
| NM_001142864.3:c.2942G>A (PIEZO1) | NP_001136336.2:p.Gly981Asp | |
| NR_103774.1:n.269+936C>T (HSALR1) | ||
| NM_001142864.4:c.2942G>A (PIEZO1) MANE Select | NP_001136336.2:p.Gly981Asp |