Linked Data
ClinVar Variation Id:
436596
ClinVar RCV Id:
RCV000503722
dbSNP Id:
rs1555899096
gnomAD v4:
20-63659451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63659451C>T , CM000682.2:g.63659451C>T | GRCh38 |
| NC_000020.10:g.62290804C>T , CM000682.1:g.62290804C>T | GRCh37 |
| NC_000020.9:g.61761248C>T | NCBI36 |
| NG_033901.1:g.6642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488316.2:n.319C>T (RTEL1) | ||
| ENST00000508582.7:c.49C>T (RTEL1) | ENSP00000424307.2:p.Pro17Ser | |
| ENST00000684971.1:n.374C>T (RTEL1) | ||
| ENST00000686756.1:n.367C>T (RTEL1) | ||
| ENST00000692658.1:n.381C>T (RTEL1) | ||
| ENST00000692911.1:n.776C>T (RTEL1) | ||
| ENST00000318100.9:c.-568+992C>T (RTEL1) | ENSP00000322287.5:n.-568+992C>T | |
| ENST00000360203.11:c.49C>T (RTEL1) MANE Select | ENSP00000353332.5:p.Pro17Ser | |
| ENST00000482936.6:c.49C>T (RTEL1) | ENSP00000457868.2:p.Pro17Ser | |
| ENST00000646389.1:c.49C>T (RTEL1) | ENSP00000494280.1:p.Pro17Ser | |
| ENST00000318100.8:c.-568+992C>T (RTEL1) | ENSP00000322287.5:n.-568+992C>T | |
| ENST00000356810.5:c.49C>T (RTEL1) | ENSP00000349265.4:p.Pro17Ser | |
| ENST00000360203.9:c.49C>T (RTEL1) | ENSP00000353332.5:p.Pro17Ser | |
| ENST00000370018.7:c.49C>T (RTEL1) | ENSP00000359035.3:p.Pro17Ser | |
| ENST00000469728.5:n.392C>T (RTEL1) | ||
| ENST00000482936.5:c.49C>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Pro17Ser | |
| ENST00000488316.1:n.303C>T (RTEL1) | ||
| ENST00000492259.6:c.49C>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Pro17Ser | |
| ENST00000508582.6:c.49C>T (RTEL1) | ENSP00000424307.2:p.Pro17Ser | |
| NM_001283009.1:c.49C>T (RTEL1) | NP_001269938.1:p.Pro17Ser | |
| NM_001283010.1:c.-568+992C>T (RTEL1) | NP_001269939.1:n.-568+992C>T | |
| NM_016434.3:c.49C>T (RTEL1) | NP_057518.1:p.Pro17Ser | |
| NM_032957.4:c.49C>T (RTEL1) | NP_116575.3:p.Pro17Ser | |
| NR_037882.1:n.876C>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.49C>T (RTEL1) MANE Select | NP_001269938.1:p.Pro17Ser | |
| NM_016434.4:c.49C>T (RTEL1) | NP_057518.1:p.Pro17Ser | |
| NM_032957.5:c.49C>T (RTEL1) | NP_116575.3:p.Pro17Ser |