gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001221 (NFE)
Exomes Max Group AF
0.00001296 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63693160C>A , CM000682.2:g.63693160C>A | GRCh38 |
| NC_000020.10:g.62324513C>A , CM000682.1:g.62324513C>A | GRCh37 |
| NC_000020.9:g.61794957C>A | NCBI36 |
| NG_033901.1:g.40351C>A | |
| NG_046961.1:g.1510C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.1616C>A (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.2941C>A (RTEL1) | ENSP00000424307.2:p.Arg981= | |
| ENST00000318100.9:c.2200C>A (RTEL1) | ENSP00000322287.5:p.Arg734= | |
| ENST00000360203.11:c.2869C>A (RTEL1) MANE Select | ENSP00000353332.5:p.Arg957= | |
| ENST00000482936.6:c.2869C>A (RTEL1) | ENSP00000457868.2:p.Arg957= | |
| ENST00000496281.2:n.2880C>A (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2200C>A (RTEL1) | ENSP00000322287.5:p.Arg734= | |
| ENST00000360203.9:c.2869C>A (RTEL1) | ENSP00000353332.5:p.Arg957= | |
| ENST00000370003.2:c.604C>A (RTEL1) | ENSP00000359020.1:p.Arg202= | |
| ENST00000370018.7:c.2869C>A (RTEL1) | ENSP00000359035.3:p.Arg957= | |
| ENST00000480273.5:n.2954C>A (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2869C>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Arg957= | |
| ENST00000492259.6:c.*471C>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*471C>A | |
| ENST00000496281.1:n.2351C>A (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.748C>A (RTEL1) | ENSP00000425576.1:p.Arg250= | |
| ENST00000508582.6:c.2941C>A (RTEL1) | ENSP00000424307.2:p.Arg981= | |
| NM_001283009.1:c.2869C>A (RTEL1) | NP_001269938.1:p.Arg957= | |
| NM_001283010.1:c.2200C>A (RTEL1) | NP_001269939.1:p.Arg734= | |
| NM_016434.3:c.2869C>A (RTEL1) | NP_057518.1:p.Arg957= | |
| NM_032957.4:c.2941C>A (RTEL1) | NP_116575.3:p.Arg981= | |
| NR_037882.1:n.3696C>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2869C>A (RTEL1) MANE Select | NP_001269938.1:p.Arg957= | |
| NM_016434.4:c.2869C>A (RTEL1) | NP_057518.1:p.Arg957= | |
| NM_032957.5:c.2941C>A (RTEL1) | NP_116575.3:p.Arg981= |