Linked Data
ClinVar Variation Id:
3235942
ClinVar RCV Id:
RCV004555203
dbSNP Id:
rs922414644
gnomAD v2:
16-88798156-G-A
gnomAD v4:
16-88731748-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88731748G>A , CM000678.2:g.88731748G>A | GRCh38 |
| NC_000016.9:g.88798156G>A , CM000678.1:g.88798156G>A | GRCh37 |
| NC_000016.8:g.87325657G>A | NCBI36 |
| NG_042229.1:g.58473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.3154C>T (PIEZO1) MANE Select | ENSP00000301015.9:p.Gln1052Ter | |
| ENST00000301015.13:c.3154C>T (PIEZO1) | ENSP00000301015.9:p.Gln1052Ter | |
| NM_001142864.2:c.3154C>T (PIEZO1) | NP_001136336.2:p.Gln1052Ter | |
| NM_001142864.3:c.3154C>T (PIEZO1) | NP_001136336.2:p.Gln1052Ter | |
| NR_103774.1:n.269+300G>A (HSALR1) | ||
| NM_001142864.4:c.3154C>T (PIEZO1) MANE Select | NP_001136336.2:p.Gln1052Ter |