Linked Data
ClinVar Variation Id:
436567
ClinVar RCV Id:
RCV000501659
RCV001543243
RCV001543244
RCV000651109
RCV001829429
RCV001613324
RCV002413378
dbSNP Id:
rs116900568
ExAC:
20:62319919 G / A
gnomAD v2:
20-62319919-G-A
gnomAD v3:
20-63688566-G-A
gnomAD v4:
20-63688566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63688566G>A , CM000682.2:g.63688566G>A | GRCh38 |
| NC_000020.10:g.62319919G>A , CM000682.1:g.62319919G>A | GRCh37 |
| NC_000020.9:g.61790363G>A | NCBI36 |
| NG_033901.1:g.35757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1435G>A (RTEL1) | ||
| ENST00000425905.6:c.1435G>A (RTEL1) | ||
| ENST00000508582.7:c.1833G>A (RTEL1) | ENSP00000424307.2:p.Pro611= | |
| ENST00000687123.1:n.1591G>A (RTEL1) | ||
| ENST00000318100.9:c.1092G>A (RTEL1) | ENSP00000322287.5:p.Pro364= | |
| ENST00000360203.11:c.1761G>A (RTEL1) MANE Select | ENSP00000353332.5:p.Pro587= | |
| ENST00000482936.6:c.1761G>A (RTEL1) | ENSP00000457868.2:p.Pro587= | |
| ENST00000496281.2:n.135G>A (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1092G>A (RTEL1) | ENSP00000322287.5:p.Pro364= | |
| ENST00000360203.9:c.1761G>A (RTEL1) | ENSP00000353332.5:p.Pro587= | |
| ENST00000370018.7:c.1761G>A (RTEL1) | ENSP00000359035.3:p.Pro587= | |
| ENST00000425905.5:c.87G>A (RTEL1) | ENSP00000388063.1:p.Pro29= | |
| ENST00000480273.5:n.1846G>A (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1761G>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Pro587= | |
| ENST00000492259.6:c.1845G>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Pro615= | |
| ENST00000508582.6:c.1833G>A (RTEL1) | ENSP00000424307.2:p.Pro611= | |
| NM_001283009.1:c.1761G>A (RTEL1) | NP_001269938.1:p.Pro587= | |
| NM_001283010.1:c.1092G>A (RTEL1) | NP_001269939.1:p.Pro364= | |
| NM_016434.3:c.1761G>A (RTEL1) | NP_057518.1:p.Pro587= | |
| NM_032957.4:c.1833G>A (RTEL1) | NP_116575.3:p.Pro611= | |
| NR_037882.1:n.2588G>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1761G>A (RTEL1) MANE Select | NP_001269938.1:p.Pro587= | |
| NM_016434.4:c.1761G>A (RTEL1) | NP_057518.1:p.Pro587= | |
| NM_032957.5:c.1833G>A (RTEL1) | NP_116575.3:p.Pro611= |