Linked Data
ClinVar Variation Id:
449904
dbSNP Id:
rs80224512
ExAC:
20:62293873 C / T
gnomAD v2:
20-62293873-C-T
gnomAD v3:
20-63662520-C-T
gnomAD v4:
20-63662520-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63662520C>T , CM000682.2:g.63662520C>T | GRCh38 |
| NC_000020.10:g.62293873C>T , CM000682.1:g.62293873C>T | GRCh37 |
| NC_000020.9:g.61764317C>T | NCBI36 |
| NG_033901.1:g.9711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.70-26C>T (RTEL1) | ||
| ENST00000425905.6:c.70-26C>T (RTEL1) | ||
| ENST00000508582.7:c.442C>T (RTEL1) | ENSP00000424307.2:p.Arg148Ter | |
| ENST00000684971.1:n.827-26C>T (RTEL1) | ||
| ENST00000686756.1:n.714-26C>T (RTEL1) | ||
| ENST00000687123.1:n.226-26C>T (RTEL1) | ||
| ENST00000692658.1:n.834-26C>T (RTEL1) | ||
| ENST00000692911.1:n.1123-26C>T (RTEL1) | ||
| ENST00000318100.9:c.-274-26C>T (RTEL1) | ENSP00000322287.5:n.-274-26C>T | |
| ENST00000360203.11:c.396-26C>T (RTEL1) MANE Select | ENSP00000353332.5:n.396-26C>T | |
| ENST00000482936.6:c.396-26C>T (RTEL1) | ENSP00000457868.2:n.396-26C>T | |
| ENST00000645309.1:n.67C>T (RTEL1) | ||
| ENST00000318100.8:c.-274-26C>T (RTEL1) | ENSP00000322287.5:n.-274-26C>T | |
| ENST00000356810.5:c.520C>T (RTEL1) | ENSP00000349265.4:p.Arg174Ter | |
| ENST00000360203.9:c.396-26C>T (RTEL1) | ENSP00000353332.5:n.396-26C>T | |
| ENST00000370018.7:c.396-26C>T (RTEL1) | ENSP00000359035.3:n.396-26C>T | |
| ENST00000482936.5:c.396-26C>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:n.396-26C>T | |
| ENST00000492259.6:c.396-26C>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.396-26C>T | |
| ENST00000508582.6:c.442C>T (RTEL1) | ENSP00000424307.2:p.Arg148Ter | |
| NM_001283009.1:c.396-26C>T (RTEL1) | NP_001269938.1:n.396-26C>T | |
| NM_001283010.1:c.-274-26C>T (RTEL1) | NP_001269939.1:n.-274-26C>T | |
| NM_016434.3:c.396-26C>T (RTEL1) | NP_057518.1:n.396-26C>T | |
| NM_032957.4:c.442C>T (RTEL1) | NP_116575.3:p.Arg148Ter | |
| NR_037882.1:n.1223-26C>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.396-26C>T (RTEL1) MANE Select | NP_001269938.1:n.396-26C>T | |
| NM_016434.4:c.396-26C>T (RTEL1) | NP_057518.1:n.396-26C>T | |
| NM_032957.5:c.442C>T (RTEL1) | NP_116575.3:p.Arg148Ter |