Linked Data
ClinVar Variation Id:
540945
dbSNP Id:
rs143550996
ExAC:
20:62309621 T / C
gnomAD v2:
20-62309621-T-C
gnomAD v3:
20-63678268-T-C
gnomAD v4:
20-63678268-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63678268T>C , CM000682.2:g.63678268T>C | GRCh38 |
| NC_000020.10:g.62309621T>C , CM000682.1:g.62309621T>C | GRCh37 |
| NC_000020.9:g.61780065T>C | NCBI36 |
| NG_033901.1:g.25459T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.633T>C (RTEL1) | ||
| ENST00000425905.6:c.633T>C (RTEL1) | ||
| ENST00000508582.7:c.1031T>C (RTEL1) | ENSP00000424307.2:p.Met344Thr | |
| ENST00000684971.1:n.1390T>C (RTEL1) | ||
| ENST00000686756.1:n.1277T>C (RTEL1) | ||
| ENST00000687123.1:n.789T>C (RTEL1) | ||
| ENST00000692658.1:n.1397T>C (RTEL1) | ||
| ENST00000318100.9:c.290T>C (RTEL1) | ENSP00000322287.5:p.Met97Thr | |
| ENST00000360203.11:c.959T>C (RTEL1) MANE Select | ENSP00000353332.5:p.Met320Thr | |
| ENST00000482936.6:c.959T>C (RTEL1) | ENSP00000457868.2:p.Met320Thr | |
| ENST00000318100.8:c.290T>C (RTEL1) | ENSP00000322287.5:p.Met97Thr | |
| ENST00000360203.9:c.959T>C (RTEL1) | ENSP00000353332.5:p.Met320Thr | |
| ENST00000370018.7:c.959T>C (RTEL1) | ENSP00000359035.3:p.Met320Thr | |
| ENST00000482936.5:c.959T>C (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Met320Thr | |
| ENST00000492259.6:c.1043T>C (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Val348Ala | |
| ENST00000508582.6:c.1031T>C (RTEL1) | ENSP00000424307.2:p.Met344Thr | |
| NM_001283009.1:c.959T>C (RTEL1) | NP_001269938.1:p.Met320Thr | |
| NM_001283010.1:c.290T>C (RTEL1) | NP_001269939.1:p.Met97Thr | |
| NM_016434.3:c.959T>C (RTEL1) | NP_057518.1:p.Met320Thr | |
| NM_032957.4:c.1031T>C (RTEL1) | NP_116575.3:p.Met344Thr | |
| NR_037882.1:n.1786T>C (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.959T>C (RTEL1) MANE Select | NP_001269938.1:p.Met320Thr | |
| NM_016434.4:c.959T>C (RTEL1) | NP_057518.1:p.Met320Thr | |
| NM_032957.5:c.1031T>C (RTEL1) | NP_116575.3:p.Met344Thr |