Linked Data
ClinVar Variation Id:
65418
ClinVar RCV Id:
RCV000055640
dbSNP Id:
rs398123052
gnomAD v4:
20-63689115-G-A
PubMed:
PMID:23329068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63689115G>A , CM000682.2:g.63689115G>A | GRCh38 |
| NC_000020.10:g.62320468G>A , CM000682.1:g.62320468G>A | GRCh37 |
| NC_000020.9:g.61790912G>A | NCBI36 |
| NG_033901.1:g.36306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1535G>A (RTEL1) | ||
| ENST00000425905.6:c.1535G>A (RTEL1) | ||
| ENST00000697814.1:n.51G>A (RTEL1) | ||
| ENST00000508582.7:c.1933G>A (RTEL1) | ENSP00000424307.2:p.Ala645Thr | |
| ENST00000687123.1:n.1691G>A (RTEL1) | ||
| ENST00000318100.9:c.1192G>A (RTEL1) | ENSP00000322287.5:p.Ala398Thr | |
| ENST00000360203.11:c.1861G>A (RTEL1) MANE Select | ENSP00000353332.5:p.Ala621Thr | |
| ENST00000482936.6:c.1861G>A (RTEL1) | ENSP00000457868.2:p.Ala621Thr | |
| ENST00000496281.2:n.684G>A (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1192G>A (RTEL1) | ENSP00000322287.5:p.Ala398Thr | |
| ENST00000360203.9:c.1861G>A (RTEL1) | ENSP00000353332.5:p.Ala621Thr | |
| ENST00000370018.7:c.1861G>A (RTEL1) | ENSP00000359035.3:p.Ala621Thr | |
| ENST00000425905.5:c.187G>A (RTEL1) | ENSP00000388063.1:p.Ala63Thr | |
| ENST00000480273.5:n.1946G>A (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1861G>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Ala621Thr | |
| ENST00000492259.6:c.1945G>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Ala649Thr | |
| ENST00000496281.1:n.155G>A (RTEL1-TNFRSF6B) | ||
| ENST00000508582.6:c.1933G>A (RTEL1) | ENSP00000424307.2:p.Ala645Thr | |
| NM_001283009.1:c.1861G>A (RTEL1) | NP_001269938.1:p.Ala621Thr | |
| NM_001283010.1:c.1192G>A (RTEL1) | NP_001269939.1:p.Ala398Thr | |
| NM_016434.3:c.1861G>A (RTEL1) | NP_057518.1:p.Ala621Thr | |
| NM_032957.4:c.1933G>A (RTEL1) | NP_116575.3:p.Ala645Thr | |
| NR_037882.1:n.2688G>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1861G>A (RTEL1) MANE Select | NP_001269938.1:p.Ala621Thr | |
| NM_016434.4:c.1861G>A (RTEL1) | NP_057518.1:p.Ala621Thr | |
| NM_032957.5:c.1933G>A (RTEL1) | NP_116575.3:p.Ala645Thr |