Linked Data
ClinVar Variation Id:
65417
ClinVar RCV Id:
RCV000055639
RCV000336673
RCV000502656
RCV000665130
RCV002509196
RCV000703852
RCV004537250
dbSNP Id:
rs373740199
ExAC:
20:62324600 C / T
gnomAD v2:
20-62324600-C-T
gnomAD v3:
20-63693247-C-T
gnomAD v4:
20-63693247-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63693247C>T , CM000682.2:g.63693247C>T | GRCh38 |
| NC_000020.10:g.62324600C>T , CM000682.1:g.62324600C>T | GRCh37 |
| NC_000020.9:g.61795044C>T | NCBI36 |
| NG_033901.1:g.40438C>T | |
| NG_046961.1:g.1597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.1703C>T (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.3028C>T (RTEL1) | ENSP00000424307.2:p.Arg1010Ter | |
| ENST00000318100.9:c.2287C>T (RTEL1) | ENSP00000322287.5:p.Arg763Ter | |
| ENST00000360203.11:c.2956C>T (RTEL1) MANE Select | ENSP00000353332.5:p.Arg986Ter | |
| ENST00000482936.6:c.2956C>T (RTEL1) | ENSP00000457868.2:p.Arg986Ter | |
| ENST00000496281.2:n.2967C>T (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2287C>T (RTEL1) | ENSP00000322287.5:p.Arg763Ter | |
| ENST00000360203.9:c.2956C>T (RTEL1) | ENSP00000353332.5:p.Arg986Ter | |
| ENST00000370003.2:c.691C>T (RTEL1) | ENSP00000359020.1:p.Arg231Ter | |
| ENST00000370018.7:c.2956C>T (RTEL1) | ENSP00000359035.3:p.Arg986Ter | |
| ENST00000480273.5:n.3041C>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2956C>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Arg986Ter | |
| ENST00000492259.6:c.*558C>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*558C>T | |
| ENST00000496281.1:n.2438C>T (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.835C>T (RTEL1) | ENSP00000425576.1:p.Arg279Ter | |
| ENST00000508582.6:c.3028C>T (RTEL1) | ENSP00000424307.2:p.Arg1010Ter | |
| NM_001283009.1:c.2956C>T (RTEL1) | NP_001269938.1:p.Arg986Ter | |
| NM_001283010.1:c.2287C>T (RTEL1) | NP_001269939.1:p.Arg763Ter | |
| NM_016434.3:c.2956C>T (RTEL1) | NP_057518.1:p.Arg986Ter | |
| NM_032957.4:c.3028C>T (RTEL1) | NP_116575.3:p.Arg1010Ter | |
| NR_037882.1:n.3783C>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2956C>T (RTEL1) MANE Select | NP_001269938.1:p.Arg986Ter | |
| NM_016434.4:c.2956C>T (RTEL1) | NP_057518.1:p.Arg986Ter | |
| NM_032957.5:c.3028C>T (RTEL1) | NP_116575.3:p.Arg1010Ter |