Linked Data
ClinVar Variation Id:
2689739
ClinVar RCV Id:
RCV003488246
dbSNP Id:
rs765114227
gnomAD v2:
16-88799041-C-G
gnomAD v4:
16-88732633-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88732633C>G , CM000678.2:g.88732633C>G | GRCh38 |
| NC_000016.9:g.88799041C>G , CM000678.1:g.88799041C>G | GRCh37 |
| NC_000016.8:g.87326542C>G | NCBI36 |
| NG_042229.1:g.57588G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2764G>C (PIEZO1) MANE Select | ENSP00000301015.9:p.Gly922Arg | |
| ENST00000301015.13:c.2764G>C (PIEZO1) | ENSP00000301015.9:p.Gly922Arg | |
| ENST00000490756.1:n.348G>C (PIEZO1) | ||
| NM_001142864.2:c.2764G>C (PIEZO1) | NP_001136336.2:p.Gly922Arg | |
| NM_001142864.3:c.2764G>C (PIEZO1) | NP_001136336.2:p.Gly922Arg | |
| NR_103774.1:n.269+1185C>G (HSALR1) | ||
| NM_001142864.4:c.2764G>C (PIEZO1) MANE Select | NP_001136336.2:p.Gly922Arg |