gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19887426 (AMR)
Genomes Max Group AF
0.19792946 (AMR)
Exomes Max Group AF
0.20477274 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63686867T>C , CM000682.2:g.63686867T>C | GRCh38 |
| NC_000020.10:g.62318220T>C , CM000682.1:g.62318220T>C | GRCh37 |
| NC_000020.9:g.61788664T>C | NCBI36 |
| NG_033901.1:g.34058T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1023-771T>C (RTEL1) | ||
| ENST00000425905.6:c.1023-771T>C (RTEL1) | ||
| ENST00000508582.7:c.1421-771T>C (RTEL1) | ENSP00000424307.2:n.1421-771T>C | |
| ENST00000687123.1:n.1179-771T>C (RTEL1) | ||
| ENST00000318100.9:c.680-771T>C (RTEL1) | ENSP00000322287.5:n.680-771T>C | |
| ENST00000360203.11:c.1349-771T>C (RTEL1) MANE Select | ENSP00000353332.5:n.1349-771T>C | |
| ENST00000482936.6:c.1349-771T>C (RTEL1) | ENSP00000457868.2:n.1349-771T>C | |
| ENST00000318100.8:c.680-771T>C (RTEL1) | ENSP00000322287.5:n.680-771T>C | |
| ENST00000360203.9:c.1349-771T>C (RTEL1) | ENSP00000353332.5:n.1349-771T>C | |
| ENST00000370018.7:c.1349-771T>C (RTEL1) | ENSP00000359035.3:n.1349-771T>C | |
| ENST00000480273.5:n.497T>C (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1349-771T>C (RTEL1-TNFRSF6B) | ENSP00000457868.1:n.1349-771T>C | |
| ENST00000492259.6:c.1433-771T>C (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.1433-771T>C | |
| ENST00000508582.6:c.1421-771T>C (RTEL1) | ENSP00000424307.2:n.1421-771T>C | |
| NM_001283009.1:c.1349-771T>C (RTEL1) | NP_001269938.1:n.1349-771T>C | |
| NM_001283010.1:c.680-771T>C (RTEL1) | NP_001269939.1:n.680-771T>C | |
| NM_016434.3:c.1349-771T>C (RTEL1) | NP_057518.1:n.1349-771T>C | |
| NM_032957.4:c.1421-771T>C (RTEL1) | NP_116575.3:n.1421-771T>C | |
| NR_037882.1:n.2176-771T>C (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1349-771T>C (RTEL1) MANE Select | NP_001269938.1:n.1349-771T>C | |
| NM_016434.4:c.1349-771T>C (RTEL1) | NP_057518.1:n.1349-771T>C | |
| NM_032957.5:c.1421-771T>C (RTEL1) | NP_116575.3:n.1421-771T>C |