Linked Data
dbSNP Id:
rs568230100
ExAC:
16:88804693 A / G
gnomAD v2:
16-88804693-A-G
gnomAD v3:
16-88738285-A-G
gnomAD v4:
16-88738285-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88738285A>G , CM000678.2:g.88738285A>G | GRCh38 |
| NC_000016.9:g.88804693A>G , CM000678.1:g.88804693A>G | GRCh37 |
| NC_000016.8:g.87332194A>G | NCBI36 |
| NG_042229.1:g.51936T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.790T>C (PIEZO1) MANE Select | ENSP00000301015.9:p.Tyr264His | |
| ENST00000301015.13:c.790T>C (PIEZO1) | ENSP00000301015.9:p.Tyr264His | |
| NM_001142864.2:c.790T>C (PIEZO1) | NP_001136336.2:p.Tyr264His | |
| NM_001142864.3:c.790T>C (PIEZO1) | NP_001136336.2:p.Tyr264His | |
| NR_103774.1:n.734A>G (HSALR1) | ||
| NM_001142864.4:c.790T>C (PIEZO1) MANE Select | NP_001136336.2:p.Tyr264His |