Linked Data
ClinVar Variation Id:
436590
dbSNP Id:
rs144002969
ExAC:
20:62323150 C / T
gnomAD v2:
20-62323150-C-T
gnomAD v3:
20-63691797-C-T
gnomAD v4:
20-63691797-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63691797C>T , CM000682.2:g.63691797C>T | GRCh38 |
| NC_000020.10:g.62323150C>T , CM000682.1:g.62323150C>T | GRCh37 |
| NC_000020.9:g.61793594C>T | NCBI36 |
| NG_033901.1:g.38988C>T | |
| NG_046961.1:g.147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.571C>T (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.2684C>T (RTEL1) | ENSP00000424307.2:p.Pro895Leu | |
| ENST00000318100.9:c.1943C>T (RTEL1) | ENSP00000322287.5:p.Pro648Leu | |
| ENST00000360203.11:c.2612C>T (RTEL1) MANE Select | ENSP00000353332.5:p.Pro871Leu | |
| ENST00000482936.6:c.2612C>T (RTEL1) | ENSP00000457868.2:p.Pro871Leu | |
| ENST00000496281.2:n.1656C>T (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1943C>T (RTEL1) | ENSP00000322287.5:p.Pro648Leu | |
| ENST00000360203.9:c.2612C>T (RTEL1) | ENSP00000353332.5:p.Pro871Leu | |
| ENST00000370003.2:c.347C>T (RTEL1) | ENSP00000359020.1:p.Pro116Leu | |
| ENST00000370018.7:c.2612C>T (RTEL1) | ENSP00000359035.3:p.Pro871Leu | |
| ENST00000480273.5:n.2697C>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2612C>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Pro871Leu | |
| ENST00000492259.6:c.*214C>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*214C>T | |
| ENST00000496281.1:n.1127C>T (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.491C>T (RTEL1) | ENSP00000425576.1:p.Pro164Leu | |
| ENST00000508582.6:c.2684C>T (RTEL1) | ENSP00000424307.2:p.Pro895Leu | |
| NM_001283009.1:c.2612C>T (RTEL1) | NP_001269938.1:p.Pro871Leu | |
| NM_001283010.1:c.1943C>T (RTEL1) | NP_001269939.1:p.Pro648Leu | |
| NM_016434.3:c.2612C>T (RTEL1) | NP_057518.1:p.Pro871Leu | |
| NM_032957.4:c.2684C>T (RTEL1) | NP_116575.3:p.Pro895Leu | |
| NR_037882.1:n.3439C>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2612C>T (RTEL1) MANE Select | NP_001269938.1:p.Pro871Leu | |
| NM_016434.4:c.2612C>T (RTEL1) | NP_057518.1:p.Pro871Leu | |
| NM_032957.5:c.2684C>T (RTEL1) | NP_116575.3:p.Pro895Leu |