Linked Data
ClinVar Variation Id:
1968459
ClinVar RCV Id:
RCV002711807
dbSNP Id:
rs1565433840
gnomAD v4:
10-122506722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506722C>T , CM000672.2:g.122506722C>T | GRCh38 |
| NC_000010.10:g.124266238C>T , CM000672.1:g.124266238C>T | GRCh37 |
| NC_000010.9:g.124256228C>T | NCBI36 |
| NG_011554.1:g.50198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.809C>T MANE Select | ENSP00000357980.3:p.Ser270Phe | |
| ENST00000648167.1:c.491C>T | ENSP00000498033.1:p.Ser164Phe | |
| ENST00000368984.7:c.809C>T | ENSP00000357980.3:p.Ser270Phe | |
| ENST00000420892.1:c.32C>T | ENSP00000412676.1:p.Ser11Phe | |
| NM_002775.4:c.809C>T | NP_002766.1:p.Ser270Phe | |
| NM_002775.5:c.809C>T MANE Select | NP_002766.1:p.Ser270Phe |