Linked Data
ClinVar Variation Id:
422356
dbSNP Id:
rs369419645
ExAC:
20:62319665 C / T
gnomAD v2:
20-62319665-C-T
gnomAD v3:
20-63688312-C-T
gnomAD v4:
20-63688312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63688312C>T , CM000682.2:g.63688312C>T | GRCh38 |
| NC_000020.10:g.62319665C>T , CM000682.1:g.62319665C>T | GRCh37 |
| NC_000020.9:g.61790109C>T | NCBI36 |
| NG_033901.1:g.35503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1322C>T (RTEL1) | ||
| ENST00000425905.6:c.1322C>T (RTEL1) | ||
| ENST00000508582.7:c.1720C>T (RTEL1) | ENSP00000424307.2:p.Arg574Cys | |
| ENST00000687123.1:n.1478C>T (RTEL1) | ||
| ENST00000318100.9:c.979C>T (RTEL1) | ENSP00000322287.5:p.Arg327Cys | |
| ENST00000360203.11:c.1648C>T (RTEL1) MANE Select | ENSP00000353332.5:p.Arg550Cys | |
| ENST00000482936.6:c.1648C>T (RTEL1) | ENSP00000457868.2:p.Arg550Cys | |
| ENST00000496281.2:n.22C>T (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.979C>T (RTEL1) | ENSP00000322287.5:p.Arg327Cys | |
| ENST00000360203.9:c.1648C>T (RTEL1) | ENSP00000353332.5:p.Arg550Cys | |
| ENST00000370018.7:c.1648C>T (RTEL1) | ENSP00000359035.3:p.Arg550Cys | |
| ENST00000480273.5:n.1733C>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1648C>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Arg550Cys | |
| ENST00000492259.6:c.1732C>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Arg578Cys | |
| ENST00000508582.6:c.1720C>T (RTEL1) | ENSP00000424307.2:p.Arg574Cys | |
| NM_001283009.1:c.1648C>T (RTEL1) | NP_001269938.1:p.Arg550Cys | |
| NM_001283010.1:c.979C>T (RTEL1) | NP_001269939.1:p.Arg327Cys | |
| NM_016434.3:c.1648C>T (RTEL1) | NP_057518.1:p.Arg550Cys | |
| NM_032957.4:c.1720C>T (RTEL1) | NP_116575.3:p.Arg574Cys | |
| NR_037882.1:n.2475C>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1648C>T (RTEL1) MANE Select | NP_001269938.1:p.Arg550Cys | |
| NM_016434.4:c.1648C>T (RTEL1) | NP_057518.1:p.Arg550Cys | |
| NM_032957.5:c.1720C>T (RTEL1) | NP_116575.3:p.Arg574Cys |