Linked Data
ClinVar Variation Id:
1234909
ClinVar RCV Id:
RCV001621673
dbSNP Id:
rs2297439
gnomAD v2:
20-62311128-T-G
gnomAD v3:
20-63679775-T-G
gnomAD v4:
20-63679775-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63679775T>G , CM000682.2:g.63679775T>G | GRCh38 |
| NC_000020.10:g.62311128T>G , CM000682.1:g.62311128T>G | GRCh37 |
| NC_000020.9:g.61781572T>G | NCBI36 |
| NG_033901.1:g.26966T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425905.7:n.712-74T>G (RTEL1) | ||
| ENST00000425905.6:c.712-74T>G (RTEL1) | ||
| ENST00000508582.7:c.1110-74T>G (RTEL1) | ENSP00000424307.2:n.1110-74T>G | |
| ENST00000684971.1:n.1469-74T>G (RTEL1) | ||
| ENST00000687123.1:n.868-74T>G (RTEL1) | ||
| ENST00000318100.9:c.369-74T>G (RTEL1) | ENSP00000322287.5:n.369-74T>G | |
| ENST00000360203.11:c.1038-74T>G (RTEL1) MANE Select | ENSP00000353332.5:n.1038-74T>G | |
| ENST00000482936.6:c.1038-74T>G (RTEL1) | ENSP00000457868.2:n.1038-74T>G | |
| ENST00000318100.8:c.369-74T>G (RTEL1) | ENSP00000322287.5:n.369-74T>G | |
| ENST00000360203.9:c.1038-74T>G (RTEL1) | ENSP00000353332.5:n.1038-74T>G | |
| ENST00000370018.7:c.1038-74T>G (RTEL1) | ENSP00000359035.3:n.1038-74T>G | |
| ENST00000482936.5:c.1038-74T>G (RTEL1-TNFRSF6B) | ENSP00000457868.1:n.1038-74T>G | |
| ENST00000492259.6:c.1122-74T>G (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.1122-74T>G | |
| ENST00000508582.6:c.1110-74T>G (RTEL1) | ENSP00000424307.2:n.1110-74T>G | |
| NM_001283009.1:c.1038-74T>G (RTEL1) | NP_001269938.1:n.1038-74T>G | |
| NM_001283010.1:c.369-74T>G (RTEL1) | NP_001269939.1:n.369-74T>G | |
| NM_016434.3:c.1038-74T>G (RTEL1) | NP_057518.1:n.1038-74T>G | |
| NM_032957.4:c.1110-74T>G (RTEL1) | NP_116575.3:n.1110-74T>G | |
| NR_037882.1:n.1865-74T>G (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1038-74T>G (RTEL1) MANE Select | NP_001269938.1:n.1038-74T>G | |
| NM_016434.4:c.1038-74T>G (RTEL1) | NP_057518.1:n.1038-74T>G | |
| NM_032957.5:c.1110-74T>G (RTEL1) | NP_116575.3:n.1110-74T>G |