Linked Data
ClinVar Variation Id:
217285
dbSNP Id:
rs146221660
ExAC:
20:62324601 G / A
gnomAD v2:
20-62324601-G-A
gnomAD v3:
20-63693248-G-A
gnomAD v4:
20-63693248-G-A
PubMed:
PMID:25607374
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63693248G>A , CM000682.2:g.63693248G>A | GRCh38 |
| NC_000020.10:g.62324601G>A , CM000682.1:g.62324601G>A | GRCh37 |
| NC_000020.9:g.61795045G>A | NCBI36 |
| NG_033901.1:g.40439G>A | |
| NG_046961.1:g.1598G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.1704G>A (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.3029G>A (RTEL1) | ENSP00000424307.2:p.Arg1010Gln | |
| ENST00000318100.9:c.2288G>A (RTEL1) | ENSP00000322287.5:p.Arg763Gln | |
| ENST00000360203.11:c.2957G>A (RTEL1) MANE Select | ENSP00000353332.5:p.Arg986Gln | |
| ENST00000482936.6:c.2957G>A (RTEL1) | ENSP00000457868.2:p.Arg986Gln | |
| ENST00000496281.2:n.2968G>A (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2288G>A (RTEL1) | ENSP00000322287.5:p.Arg763Gln | |
| ENST00000360203.9:c.2957G>A (RTEL1) | ENSP00000353332.5:p.Arg986Gln | |
| ENST00000370003.2:c.692G>A (RTEL1) | ENSP00000359020.1:p.Arg231Gln | |
| ENST00000370018.7:c.2957G>A (RTEL1) | ENSP00000359035.3:p.Arg986Gln | |
| ENST00000480273.5:n.3042G>A (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2957G>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Arg986Gln | |
| ENST00000492259.6:c.*559G>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*559G>A | |
| ENST00000496281.1:n.2439G>A (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.836G>A (RTEL1) | ENSP00000425576.1:p.Arg279Gln | |
| ENST00000508582.6:c.3029G>A (RTEL1) | ENSP00000424307.2:p.Arg1010Gln | |
| NM_001283009.1:c.2957G>A (RTEL1) | NP_001269938.1:p.Arg986Gln | |
| NM_001283010.1:c.2288G>A (RTEL1) | NP_001269939.1:p.Arg763Gln | |
| NM_016434.3:c.2957G>A (RTEL1) | NP_057518.1:p.Arg986Gln | |
| NM_032957.4:c.3029G>A (RTEL1) | NP_116575.3:p.Arg1010Gln | |
| NR_037882.1:n.3784G>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2957G>A (RTEL1) MANE Select | NP_001269938.1:p.Arg986Gln | |
| NM_016434.4:c.2957G>A (RTEL1) | NP_057518.1:p.Arg986Gln | |
| NM_032957.5:c.3029G>A (RTEL1) | NP_116575.3:p.Arg1010Gln |