Linked Data
ClinVar Variation Id:
1019137
dbSNP Id:
rs375403784
ExAC:
20:62303925 A / G
gnomAD v2:
20-62303925-A-G
gnomAD v4:
20-63672572-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63672572A>G , CM000682.2:g.63672572A>G | GRCh38 |
| NC_000020.10:g.62303925A>G , CM000682.1:g.62303925A>G | GRCh37 |
| NC_000020.9:g.61774369A>G | NCBI36 |
| NG_033901.1:g.19763A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.390A>G (RTEL1) | ||
| ENST00000425905.6:c.390A>G (RTEL1) | ||
| ENST00000508582.7:c.788A>G (RTEL1) | ENSP00000424307.2:p.Asn263Ser | |
| ENST00000684971.1:n.1147A>G (RTEL1) | ||
| ENST00000686756.1:n.1034A>G (RTEL1) | ||
| ENST00000687123.1:n.546A>G (RTEL1) | ||
| ENST00000692658.1:n.1154A>G (RTEL1) | ||
| ENST00000692911.1:n.1443A>G (RTEL1) | ||
| ENST00000318100.9:c.47A>G (RTEL1) | ENSP00000322287.5:p.Asn16Ser | |
| ENST00000360203.11:c.716A>G (RTEL1) MANE Select | ENSP00000353332.5:p.Asn239Ser | |
| ENST00000482936.6:c.716A>G (RTEL1) | ENSP00000457868.2:p.Asn239Ser | |
| ENST00000318100.8:c.47A>G (RTEL1) | ENSP00000322287.5:p.Asn16Ser | |
| ENST00000356810.5:c.866A>G (RTEL1) | ENSP00000349265.4:p.Asn289Ser | |
| ENST00000360203.9:c.716A>G (RTEL1) | ENSP00000353332.5:p.Asn239Ser | |
| ENST00000370018.7:c.716A>G (RTEL1) | ENSP00000359035.3:p.Asn239Ser | |
| ENST00000463361.1:n.413A>G (RTEL1) | ||
| ENST00000482936.5:c.716A>G (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Asn239Ser | |
| ENST00000492259.6:c.716A>G (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Asn239Ser | |
| ENST00000508582.6:c.788A>G (RTEL1) | ENSP00000424307.2:p.Asn263Ser | |
| NM_001283009.1:c.716A>G (RTEL1) | NP_001269938.1:p.Asn239Ser | |
| NM_001283010.1:c.47A>G (RTEL1) | NP_001269939.1:p.Asn16Ser | |
| NM_016434.3:c.716A>G (RTEL1) | NP_057518.1:p.Asn239Ser | |
| NM_032957.4:c.788A>G (RTEL1) | NP_116575.3:p.Asn263Ser | |
| NR_037882.1:n.1543A>G (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.716A>G (RTEL1) MANE Select | NP_001269938.1:p.Asn239Ser | |
| NM_016434.4:c.716A>G (RTEL1) | NP_057518.1:p.Asn239Ser | |
| NM_032957.5:c.788A>G (RTEL1) | NP_116575.3:p.Asn263Ser |