gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10983207 (AFR)
Genomes Max Group AF
0.10983207 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63666449A>G , CM000682.2:g.63666449A>G | GRCh38 |
| NC_000020.10:g.62297802A>G , CM000682.1:g.62297802A>G | GRCh37 |
| NC_000020.9:g.61768246A>G | NCBI36 |
| NG_033901.1:g.13640A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.288+370A>G (RTEL1) | ||
| ENST00000425905.6:c.288+370A>G (RTEL1) | ||
| ENST00000508582.7:c.686+370A>G (RTEL1) | ENSP00000424307.2:n.686+370A>G | |
| ENST00000684971.1:n.1045+370A>G (RTEL1) | ||
| ENST00000686756.1:n.932+370A>G (RTEL1) | ||
| ENST00000687123.1:n.444+370A>G (RTEL1) | ||
| ENST00000692658.1:n.1052+370A>G (RTEL1) | ||
| ENST00000692911.1:n.1341+370A>G (RTEL1) | ||
| ENST00000318100.9:c.-56+370A>G (RTEL1) | ENSP00000322287.5:n.-56+370A>G | |
| ENST00000360203.11:c.614+370A>G (RTEL1) MANE Select | ENSP00000353332.5:n.614+370A>G | |
| ENST00000482936.6:c.614+370A>G (RTEL1) | ENSP00000457868.2:n.614+370A>G | |
| ENST00000318100.8:c.-56+370A>G (RTEL1) | ENSP00000322287.5:n.-56+370A>G | |
| ENST00000356810.5:c.764+370A>G (RTEL1) | ENSP00000349265.4:n.764+370A>G | |
| ENST00000360203.9:c.614+370A>G (RTEL1) | ENSP00000353332.5:n.614+370A>G | |
| ENST00000370018.7:c.614+370A>G (RTEL1) | ENSP00000359035.3:n.614+370A>G | |
| ENST00000463361.1:n.311+370A>G (RTEL1) | ||
| ENST00000482936.5:c.614+370A>G (RTEL1-TNFRSF6B) | ENSP00000457868.1:n.614+370A>G | |
| ENST00000492259.6:c.614+370A>G (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.614+370A>G | |
| ENST00000508582.6:c.686+370A>G (RTEL1) | ENSP00000424307.2:n.686+370A>G | |
| NM_001283009.1:c.614+370A>G (RTEL1) | NP_001269938.1:n.614+370A>G | |
| NM_001283010.1:c.-56+370A>G (RTEL1) | NP_001269939.1:n.-56+370A>G | |
| NM_016434.3:c.614+370A>G (RTEL1) | NP_057518.1:n.614+370A>G | |
| NM_032957.4:c.686+370A>G (RTEL1) | NP_116575.3:n.686+370A>G | |
| NR_037882.1:n.1441+370A>G (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.614+370A>G (RTEL1) MANE Select | NP_001269938.1:n.614+370A>G | |
| NM_016434.4:c.614+370A>G (RTEL1) | NP_057518.1:n.614+370A>G | |
| NM_032957.5:c.686+370A>G (RTEL1) | NP_116575.3:n.686+370A>G |