Linked Data
ClinVar Variation Id:
65415
ClinVar RCV Id:
RCV000055637
dbSNP Id:
rs398123050
ExAC:
20:62321223 G / A
gnomAD v2:
20-62321223-G-A
gnomAD v4:
20-63689870-G-A
PubMed:
PMID:23591994
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63689870G>A , CM000682.2:g.63689870G>A | GRCh38 |
| NC_000020.10:g.62321223G>A , CM000682.1:g.62321223G>A | GRCh37 |
| NC_000020.9:g.61791667G>A | NCBI36 |
| NG_033901.1:g.37061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1668+5G>A (RTEL1) | ||
| ENST00000425905.6:c.1668+5G>A (RTEL1) | ||
| ENST00000697814.1:n.331+5G>A (RTEL1) | ||
| ENST00000697815.1:n.100+5G>A (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.2213+5G>A (RTEL1) | ENSP00000424307.2:n.2213+5G>A | |
| ENST00000687123.1:n.1824+5G>A (RTEL1) | ||
| ENST00000318100.9:c.1472+5G>A (RTEL1) | ENSP00000322287.5:n.1472+5G>A | |
| ENST00000360203.11:c.2141+5G>A (RTEL1) MANE Select | ENSP00000353332.5:n.2141+5G>A | |
| ENST00000482936.6:c.2141+5G>A (RTEL1) | ENSP00000457868.2:n.2141+5G>A | |
| ENST00000496281.2:n.969G>A (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1472+5G>A (RTEL1) | ENSP00000322287.5:n.1472+5G>A | |
| ENST00000360203.9:c.2141+5G>A (RTEL1) | ENSP00000353332.5:n.2141+5G>A | |
| ENST00000370018.7:c.2141+5G>A (RTEL1) | ENSP00000359035.3:n.2141+5G>A | |
| ENST00000425905.5:c.320+5G>A (RTEL1) | ENSP00000388063.1:n.320+5G>A | |
| ENST00000480273.5:n.2226+5G>A (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2141+5G>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:n.2141+5G>A | |
| ENST00000492259.6:c.2225+5G>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.2225+5G>A | |
| ENST00000496281.1:n.440G>A (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.20+5G>A (RTEL1) | ENSP00000425576.1:n.20+5G>A | |
| ENST00000508582.6:c.2213+5G>A (RTEL1) | ENSP00000424307.2:n.2213+5G>A | |
| NM_001283009.1:c.2141+5G>A (RTEL1) | NP_001269938.1:n.2141+5G>A | |
| NM_001283010.1:c.1472+5G>A (RTEL1) | NP_001269939.1:n.1472+5G>A | |
| NM_016434.3:c.2141+5G>A (RTEL1) | NP_057518.1:n.2141+5G>A | |
| NM_032957.4:c.2213+5G>A (RTEL1) | NP_116575.3:n.2213+5G>A | |
| NR_037882.1:n.2968+5G>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2141+5G>A (RTEL1) MANE Select | NP_001269938.1:n.2141+5G>A | |
| NM_016434.4:c.2141+5G>A (RTEL1) | NP_057518.1:n.2141+5G>A | |
| NM_032957.5:c.2213+5G>A (RTEL1) | NP_116575.3:n.2213+5G>A |