Linked Data
ClinVar Variation Id:
65416
ClinVar RCV Id:
RCV000055638
dbSNP Id:
rs398123051
PubMed:
PMID:23329068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63688578G>T , CM000682.2:g.63688578G>T | GRCh38 |
| NC_000020.10:g.62319931G>T , CM000682.1:g.62319931G>T | GRCh37 |
| NC_000020.9:g.61790375G>T | NCBI36 |
| NG_033901.1:g.35769G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1447G>T (RTEL1) | ||
| ENST00000425905.6:c.1447G>T (RTEL1) | ||
| ENST00000508582.7:c.1845G>T (RTEL1) | ENSP00000424307.2:p.Glu615Asp | |
| ENST00000687123.1:n.1603G>T (RTEL1) | ||
| ENST00000318100.9:c.1104G>T (RTEL1) | ENSP00000322287.5:p.Glu368Asp | |
| ENST00000360203.11:c.1773G>T (RTEL1) MANE Select | ENSP00000353332.5:p.Glu591Asp | |
| ENST00000482936.6:c.1773G>T (RTEL1) | ENSP00000457868.2:p.Glu591Asp | |
| ENST00000496281.2:n.147G>T (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1104G>T (RTEL1) | ENSP00000322287.5:p.Glu368Asp | |
| ENST00000360203.9:c.1773G>T (RTEL1) | ENSP00000353332.5:p.Glu591Asp | |
| ENST00000370018.7:c.1773G>T (RTEL1) | ENSP00000359035.3:p.Glu591Asp | |
| ENST00000425905.5:c.99G>T (RTEL1) | ENSP00000388063.1:p.Glu33Asp | |
| ENST00000480273.5:n.1858G>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1773G>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Glu591Asp | |
| ENST00000492259.6:c.1857G>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Glu619Asp | |
| ENST00000508582.6:c.1845G>T (RTEL1) | ENSP00000424307.2:p.Glu615Asp | |
| NM_001283009.1:c.1773G>T (RTEL1) | NP_001269938.1:p.Glu591Asp | |
| NM_001283010.1:c.1104G>T (RTEL1) | NP_001269939.1:p.Glu368Asp | |
| NM_016434.3:c.1773G>T (RTEL1) | NP_057518.1:p.Glu591Asp | |
| NM_032957.4:c.1845G>T (RTEL1) | NP_116575.3:p.Glu615Asp | |
| NR_037882.1:n.2600G>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1773G>T (RTEL1) MANE Select | NP_001269938.1:p.Glu591Asp | |
| NM_016434.4:c.1773G>T (RTEL1) | NP_057518.1:p.Glu591Asp | |
| NM_032957.5:c.1845G>T (RTEL1) | NP_116575.3:p.Glu615Asp |