Linked Data
dbSNP Id:
rs548581637
ExAC:
16:88800419 G / C
gnomAD v2:
16-88800419-G-C
gnomAD v3:
16-88734011-G-C
gnomAD v4:
16-88734011-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88734011G>C , CM000678.2:g.88734011G>C | GRCh38 |
| NC_000016.9:g.88800419G>C , CM000678.1:g.88800419G>C | GRCh37 |
| NC_000016.8:g.87327920G>C | NCBI36 |
| NG_042229.1:g.56210C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2224C>G (PIEZO1) MANE Select | ENSP00000301015.9:p.Gln742Glu | |
| ENST00000301015.13:c.2224C>G (PIEZO1) | ENSP00000301015.9:p.Gln742Glu | |
| NM_001142864.2:c.2224C>G (PIEZO1) | NP_001136336.2:p.Gln742Glu | |
| NM_001142864.3:c.2224C>G (PIEZO1) | NP_001136336.2:p.Gln742Glu | |
| NR_103774.1:n.269+2563G>C (HSALR1) | ||
| NM_001142864.4:c.2224C>G (PIEZO1) MANE Select | NP_001136336.2:p.Gln742Glu |