Linked Data
ClinVar Variation Id:
42020
ClinVar RCV Id:
RCV000034862
RCV000201744
RCV000589642
RCV000651094
RCV001558635
RCV002509182
RCV003492338
dbSNP Id:
rs398123017
ExAC:
20:62324564 C / T
gnomAD v2:
20-62324564-C-T
gnomAD v3:
20-63693211-C-T
gnomAD v4:
20-63693211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63693211C>T , CM000682.2:g.63693211C>T | GRCh38 |
| NC_000020.10:g.62324564C>T , CM000682.1:g.62324564C>T | GRCh37 |
| NC_000020.9:g.61795008C>T | NCBI36 |
| NG_033901.1:g.40402C>T | |
| NG_046961.1:g.1561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.1667C>T (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.2992C>T (RTEL1) | ENSP00000424307.2:p.Arg998Ter | |
| ENST00000318100.9:c.2251C>T (RTEL1) | ENSP00000322287.5:p.Arg751Ter | |
| ENST00000360203.11:c.2920C>T (RTEL1) MANE Select | ENSP00000353332.5:p.Arg974Ter | |
| ENST00000482936.6:c.2920C>T (RTEL1) | ENSP00000457868.2:p.Arg974Ter | |
| ENST00000496281.2:n.2931C>T (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2251C>T (RTEL1) | ENSP00000322287.5:p.Arg751Ter | |
| ENST00000360203.9:c.2920C>T (RTEL1) | ENSP00000353332.5:p.Arg974Ter | |
| ENST00000370003.2:c.655C>T (RTEL1) | ENSP00000359020.1:p.Arg219Ter | |
| ENST00000370018.7:c.2920C>T (RTEL1) | ENSP00000359035.3:p.Arg974Ter | |
| ENST00000480273.5:n.3005C>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2920C>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Arg974Ter | |
| ENST00000492259.6:c.*522C>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*522C>T | |
| ENST00000496281.1:n.2402C>T (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.799C>T (RTEL1) | ENSP00000425576.1:p.Arg267Ter | |
| ENST00000508582.6:c.2992C>T (RTEL1) | ENSP00000424307.2:p.Arg998Ter | |
| NM_001283009.1:c.2920C>T (RTEL1) | NP_001269938.1:p.Arg974Ter | |
| NM_001283010.1:c.2251C>T (RTEL1) | NP_001269939.1:p.Arg751Ter | |
| NM_016434.3:c.2920C>T (RTEL1) | NP_057518.1:p.Arg974Ter | |
| NM_032957.4:c.2992C>T (RTEL1) | NP_116575.3:p.Arg998Ter | |
| NR_037882.1:n.3747C>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2920C>T (RTEL1) MANE Select | NP_001269938.1:p.Arg974Ter | |
| NM_016434.4:c.2920C>T (RTEL1) | NP_057518.1:p.Arg974Ter | |
| NM_032957.5:c.2992C>T (RTEL1) | NP_116575.3:p.Arg998Ter |