Linked Data
ClinVar Variation Id:
65412
dbSNP Id:
rs587777037
ExAC:
20:62326911 T / C
gnomAD v2:
20-62326911-T-C
gnomAD v4:
20-63695558-T-C
PubMed:
PMID:23591994
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63695558T>C , CM000682.2:g.63695558T>C | GRCh38 |
| NC_000020.10:g.62326911T>C , CM000682.1:g.62326911T>C | GRCh37 |
| NC_000020.9:g.61797355T>C | NCBI36 |
| NG_033901.1:g.42749T>C | |
| NG_046961.1:g.3908T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.2477T>C (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.3724+78T>C (RTEL1) | ENSP00000424307.2:n.3724+78T>C | |
| ENST00000318100.9:c.2983+78T>C (RTEL1) | ENSP00000322287.5:n.2983+78T>C | |
| ENST00000360203.11:c.3730T>C (RTEL1) MANE Select | ENSP00000353332.5:p.Cys1244Arg | |
| ENST00000496281.2:n.3741T>C (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2983+78T>C (RTEL1) | ENSP00000322287.5:n.2983+78T>C | |
| ENST00000360203.9:c.3730T>C (RTEL1) | ENSP00000353332.5:p.Cys1244Arg | |
| ENST00000370003.2:c.1465T>C (RTEL1) | ENSP00000359020.1:p.Cys489Arg | |
| ENST00000370018.7:c.3652+78T>C (RTEL1) | ENSP00000359035.3:n.3652+78T>C | |
| ENST00000480273.5:n.3737+78T>C (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.3730T>C (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Cys1244Arg | |
| ENST00000492259.6:c.*1254+78T>C (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*1254+78T>C | |
| ENST00000496281.1:n.3212T>C (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.1662T>C (RTEL1) | ENSP00000425576.1:n.1662T>C | |
| ENST00000508582.6:c.3724+78T>C (RTEL1) | ENSP00000424307.2:n.3724+78T>C | |
| NM_001283009.1:c.3730T>C (RTEL1) | NP_001269938.1:p.Cys1244Arg | |
| NM_001283010.1:c.2983+78T>C (RTEL1) | NP_001269939.1:n.2983+78T>C | |
| NM_016434.3:c.3652+78T>C (RTEL1) | NP_057518.1:n.3652+78T>C | |
| NM_032957.4:c.3724+78T>C (RTEL1) | NP_116575.3:n.3724+78T>C | |
| NR_037882.1:n.4557T>C (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.3730T>C (RTEL1) MANE Select | NP_001269938.1:p.Cys1244Arg | |
| NM_016434.4:c.3652+78T>C (RTEL1) | NP_057518.1:n.3652+78T>C | |
| NM_032957.5:c.3724+78T>C (RTEL1) | NP_116575.3:n.3724+78T>C |