Linked Data
ClinVar Variation Id:
1162801
ClinVar RCV Id:
RCV001507363
dbSNP Id:
rs567192344
ExAC:
16:88800428 C / G
gnomAD v2:
16-88800428-C-G
gnomAD v3:
16-88734020-C-G
gnomAD v4:
16-88734020-C-G
COSMIC:
COSM4987952
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88734020C>G , CM000678.2:g.88734020C>G | GRCh38 |
| NC_000016.9:g.88800428C>G , CM000678.1:g.88800428C>G | GRCh37 |
| NC_000016.8:g.87327929C>G | NCBI36 |
| NG_042229.1:g.56201G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2215G>C (PIEZO1) MANE Select | ENSP00000301015.9:p.Glu739Gln | |
| ENST00000301015.13:c.2215G>C (PIEZO1) | ENSP00000301015.9:p.Glu739Gln | |
| NM_001142864.2:c.2215G>C (PIEZO1) | NP_001136336.2:p.Glu739Gln | |
| NM_001142864.3:c.2215G>C (PIEZO1) | NP_001136336.2:p.Glu739Gln | |
| NR_103774.1:n.269+2572C>G (HSALR1) | ||
| NM_001142864.4:c.2215G>C (PIEZO1) MANE Select | NP_001136336.2:p.Glu739Gln |