Linked Data
ClinVar Variation Id:
42018
ClinVar RCV Id:
RCV000034860
RCV000201662
RCV000524079
RCV000586517
RCV000814441
RCV002222150
RCV002513343
RCV003329238
dbSNP Id:
rs201540674
ExAC:
20:62326972 G / A
gnomAD v2:
20-62326972-G-A
gnomAD v3:
20-63695619-G-A
gnomAD v4:
20-63695619-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63695619G>A , CM000682.2:g.63695619G>A | GRCh38 |
| NC_000020.10:g.62326972G>A , CM000682.1:g.62326972G>A | GRCh37 |
| NC_000020.9:g.61797416G>A | NCBI36 |
| NG_033901.1:g.42810G>A | |
| NG_046961.1:g.3969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.2538G>A (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.3724+139G>A (RTEL1) | ENSP00000424307.2:n.3724+139G>A | |
| ENST00000318100.9:c.2983+139G>A (RTEL1) | ENSP00000322287.5:n.2983+139G>A | |
| ENST00000360203.11:c.3791G>A (RTEL1) MANE Select | ENSP00000353332.5:p.Arg1264His | |
| ENST00000496281.2:n.3802G>A (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2983+139G>A (RTEL1) | ENSP00000322287.5:n.2983+139G>A | |
| ENST00000360203.9:c.3791G>A (RTEL1) | ENSP00000353332.5:p.Arg1264His | |
| ENST00000370003.2:c.1526G>A (RTEL1) | ENSP00000359020.1:p.Arg509His | |
| ENST00000370018.7:c.3652+139G>A (RTEL1) | ENSP00000359035.3:n.3652+139G>A | |
| ENST00000480273.5:n.3737+139G>A (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.3791G>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Arg1264His | |
| ENST00000492259.6:c.*1254+139G>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*1254+139G>A | |
| ENST00000496281.1:n.3273G>A (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.1723G>A (RTEL1) | ENSP00000425576.1:n.1723G>A | |
| ENST00000508582.6:c.3724+139G>A (RTEL1) | ENSP00000424307.2:n.3724+139G>A | |
| NM_001283009.1:c.3791G>A (RTEL1) | NP_001269938.1:p.Arg1264His | |
| NM_001283010.1:c.2983+139G>A (RTEL1) | NP_001269939.1:n.2983+139G>A | |
| NM_016434.3:c.3652+139G>A (RTEL1) | NP_057518.1:n.3652+139G>A | |
| NM_032957.4:c.3724+139G>A (RTEL1) | NP_116575.3:n.3724+139G>A | |
| NR_037882.1:n.4618G>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.3791G>A (RTEL1) MANE Select | NP_001269938.1:p.Arg1264His | |
| NM_016434.4:c.3652+139G>A (RTEL1) | NP_057518.1:n.3652+139G>A | |
| NM_032957.5:c.3724+139G>A (RTEL1) | NP_116575.3:n.3724+139G>A |