Linked Data
ClinVar Variation Id:
403401
dbSNP Id:
rs3208007
ExAC:
20:62322288 T / C
gnomAD v2:
20-62322288-T-C
gnomAD v3:
20-63690935-T-C
gnomAD v4:
20-63690935-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63690935T>C , CM000682.2:g.63690935T>C | GRCh38 |
| NC_000020.10:g.62322288T>C , CM000682.1:g.62322288T>C | GRCh37 |
| NC_000020.9:g.61792732T>C | NCBI36 |
| NG_033901.1:g.38126T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.503T>C (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.2616T>C (RTEL1) | ENSP00000424307.2:p.Pro872= | |
| ENST00000318100.9:c.1875T>C (RTEL1) | ENSP00000322287.5:p.Pro625= | |
| ENST00000360203.11:c.2544T>C (RTEL1) MANE Select | ENSP00000353332.5:p.Pro848= | |
| ENST00000482936.6:c.2544T>C (RTEL1) | ENSP00000457868.2:p.Pro848= | |
| ENST00000496281.2:n.1588T>C (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1875T>C (RTEL1) | ENSP00000322287.5:p.Pro625= | |
| ENST00000360203.9:c.2544T>C (RTEL1) | ENSP00000353332.5:p.Pro848= | |
| ENST00000370003.2:c.279T>C (RTEL1) | ENSP00000359020.1:p.Pro93= | |
| ENST00000370018.7:c.2544T>C (RTEL1) | ENSP00000359035.3:p.Pro848= | |
| ENST00000480273.5:n.2629T>C (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2544T>C (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Pro848= | |
| ENST00000492259.6:c.*146T>C (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*146T>C | |
| ENST00000496281.1:n.1059T>C (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.423T>C (RTEL1) | ENSP00000425576.1:p.Pro141= | |
| ENST00000508582.6:c.2616T>C (RTEL1) | ENSP00000424307.2:p.Pro872= | |
| NM_001283009.1:c.2544T>C (RTEL1) | NP_001269938.1:p.Pro848= | |
| NM_001283010.1:c.1875T>C (RTEL1) | NP_001269939.1:p.Pro625= | |
| NM_016434.3:c.2544T>C (RTEL1) | NP_057518.1:p.Pro848= | |
| NM_032957.4:c.2616T>C (RTEL1) | NP_116575.3:p.Pro872= | |
| NR_037882.1:n.3371T>C (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2544T>C (RTEL1) MANE Select | NP_001269938.1:p.Pro848= | |
| NM_016434.4:c.2544T>C (RTEL1) | NP_057518.1:p.Pro848= | |
| NM_032957.5:c.2616T>C (RTEL1) | NP_116575.3:p.Pro872= |