Linked Data
ClinVar Variation Id:
65413
ClinVar RCV Id:
RCV000055635
dbSNP Id:
rs398123048
PubMed:
PMID:23591994
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63689821C>G , CM000682.2:g.63689821C>G | GRCh38 |
| NC_000020.10:g.62321174C>G , CM000682.1:g.62321174C>G | GRCh37 |
| NC_000020.9:g.61791618C>G | NCBI36 |
| NG_033901.1:g.37012C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1624C>G (RTEL1) | ||
| ENST00000425905.6:c.1624C>G (RTEL1) | ||
| ENST00000697814.1:n.287C>G (RTEL1) | ||
| ENST00000697815.1:n.56C>G (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.2169C>G (RTEL1) | ENSP00000424307.2:p.Ile723Met | |
| ENST00000687123.1:n.1780C>G (RTEL1) | ||
| ENST00000318100.9:c.1428C>G (RTEL1) | ENSP00000322287.5:p.Ile476Met | |
| ENST00000360203.11:c.2097C>G (RTEL1) MANE Select | ENSP00000353332.5:p.Ile699Met | |
| ENST00000482936.6:c.2097C>G (RTEL1) | ENSP00000457868.2:p.Ile699Met | |
| ENST00000496281.2:n.920C>G (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1428C>G (RTEL1) | ENSP00000322287.5:p.Ile476Met | |
| ENST00000360203.9:c.2097C>G (RTEL1) | ENSP00000353332.5:p.Ile699Met | |
| ENST00000370018.7:c.2097C>G (RTEL1) | ENSP00000359035.3:p.Ile699Met | |
| ENST00000425905.5:c.276C>G (RTEL1) | ENSP00000388063.1:p.Ile92Met | |
| ENST00000480273.5:n.2182C>G (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2097C>G (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Ile699Met | |
| ENST00000492259.6:c.2181C>G (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Ile727Met | |
| ENST00000496281.1:n.391C>G (RTEL1-TNFRSF6B) | ||
| ENST00000508582.6:c.2169C>G (RTEL1) | ENSP00000424307.2:p.Ile723Met | |
| NM_001283009.1:c.2097C>G (RTEL1) | NP_001269938.1:p.Ile699Met | |
| NM_001283010.1:c.1428C>G (RTEL1) | NP_001269939.1:p.Ile476Met | |
| NM_016434.3:c.2097C>G (RTEL1) | NP_057518.1:p.Ile699Met | |
| NM_032957.4:c.2169C>G (RTEL1) | NP_116575.3:p.Ile723Met | |
| NR_037882.1:n.2924C>G (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2097C>G (RTEL1) MANE Select | NP_001269938.1:p.Ile699Met | |
| NM_016434.4:c.2097C>G (RTEL1) | NP_057518.1:p.Ile699Met | |
| NM_032957.5:c.2169C>G (RTEL1) | NP_116575.3:p.Ile723Met |