COSMIC:
COSM6351523 (not active)
COSM6351524 (not active)
COSM6351525 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93734932 (AFR)
Genomes Max Group AF
0.9301141 (AFR)
Exomes Max Group AF
0.94095115 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63689615T>C , CM000682.2:g.63689615T>C | GRCh38 |
| NC_000020.10:g.62320968T>C , CM000682.1:g.62320968T>C | GRCh37 |
| NC_000020.9:g.61791412T>C | NCBI36 |
| NG_033901.1:g.36806T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1553-135T>C (RTEL1) | ||
| ENST00000425905.6:c.1553-135T>C (RTEL1) | ||
| ENST00000697814.1:n.182T>C (RTEL1) | ||
| ENST00000508582.7:c.2064T>C (RTEL1) | ENSP00000424307.2:p.Asp688= | |
| ENST00000687123.1:n.1709-135T>C (RTEL1) | ||
| ENST00000318100.9:c.1323T>C (RTEL1) | ENSP00000322287.5:p.Asp441= | |
| ENST00000360203.11:c.1992T>C (RTEL1) MANE Select | ENSP00000353332.5:p.Asp664= | |
| ENST00000482936.6:c.1992T>C (RTEL1) | ENSP00000457868.2:p.Asp664= | |
| ENST00000496281.2:n.815T>C (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1323T>C (RTEL1) | ENSP00000322287.5:p.Asp441= | |
| ENST00000360203.9:c.1992T>C (RTEL1) | ENSP00000353332.5:p.Asp664= | |
| ENST00000370018.7:c.1992T>C (RTEL1) | ENSP00000359035.3:p.Asp664= | |
| ENST00000425905.5:c.205-135T>C (RTEL1) | ENSP00000388063.1:n.205-135T>C | |
| ENST00000480273.5:n.2077T>C (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1992T>C (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Asp664= | |
| ENST00000492259.6:c.2076T>C (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Asp692= | |
| ENST00000496281.1:n.286T>C (RTEL1-TNFRSF6B) | ||
| ENST00000508582.6:c.2064T>C (RTEL1) | ENSP00000424307.2:p.Asp688= | |
| NM_001283009.1:c.1992T>C (RTEL1) | NP_001269938.1:p.Asp664= | |
| NM_001283010.1:c.1323T>C (RTEL1) | NP_001269939.1:p.Asp441= | |
| NM_016434.3:c.1992T>C (RTEL1) | NP_057518.1:p.Asp664= | |
| NM_032957.4:c.2064T>C (RTEL1) | NP_116575.3:p.Asp688= | |
| NR_037882.1:n.2819T>C (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1992T>C (RTEL1) MANE Select | NP_001269938.1:p.Asp664= | |
| NM_016434.4:c.1992T>C (RTEL1) | NP_057518.1:p.Asp664= | |
| NM_032957.5:c.2064T>C (RTEL1) | NP_116575.3:p.Asp688= |