Linked Data
ClinVar Variation Id:
436565
dbSNP Id:
rs772899702
ExAC:
20:62318982 G / A
gnomAD v2:
20-62318982-G-A
gnomAD v3:
20-63687629-G-A
gnomAD v4:
20-63687629-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63687629G>A , CM000682.2:g.63687629G>A | GRCh38 |
| NC_000020.10:g.62318982G>A , CM000682.1:g.62318982G>A | GRCh37 |
| NC_000020.9:g.61789426G>A | NCBI36 |
| NG_033901.1:g.34820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1023-9G>A (RTEL1) | ||
| ENST00000425905.6:c.1023-9G>A (RTEL1) | ||
| ENST00000508582.7:c.1421-9G>A (RTEL1) | ENSP00000424307.2:n.1421-9G>A | |
| ENST00000687123.1:n.1179-9G>A (RTEL1) | ||
| ENST00000318100.9:c.680-9G>A (RTEL1) | ENSP00000322287.5:n.680-9G>A | |
| ENST00000360203.11:c.1349-9G>A (RTEL1) MANE Select | ENSP00000353332.5:n.1349-9G>A | |
| ENST00000482936.6:c.1349-9G>A (RTEL1) | ENSP00000457868.2:n.1349-9G>A | |
| ENST00000318100.8:c.680-9G>A (RTEL1) | ENSP00000322287.5:n.680-9G>A | |
| ENST00000360203.9:c.1349-9G>A (RTEL1) | ENSP00000353332.5:n.1349-9G>A | |
| ENST00000370018.7:c.1349-9G>A (RTEL1) | ENSP00000359035.3:n.1349-9G>A | |
| ENST00000480273.5:n.1259G>A (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1349-9G>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:n.1349-9G>A | |
| ENST00000492259.6:c.1433-9G>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.1433-9G>A | |
| ENST00000508582.6:c.1421-9G>A (RTEL1) | ENSP00000424307.2:n.1421-9G>A | |
| NM_001283009.1:c.1349-9G>A (RTEL1) | NP_001269938.1:n.1349-9G>A | |
| NM_001283010.1:c.680-9G>A (RTEL1) | NP_001269939.1:n.680-9G>A | |
| NM_016434.3:c.1349-9G>A (RTEL1) | NP_057518.1:n.1349-9G>A | |
| NM_032957.4:c.1421-9G>A (RTEL1) | NP_116575.3:n.1421-9G>A | |
| NR_037882.1:n.2176-9G>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1349-9G>A (RTEL1) MANE Select | NP_001269938.1:n.1349-9G>A | |
| NM_016434.4:c.1349-9G>A (RTEL1) | NP_057518.1:n.1349-9G>A | |
| NM_032957.5:c.1421-9G>A (RTEL1) | NP_116575.3:n.1421-9G>A |