Linked Data
dbSNP Id:
rs748740521
ExAC:
20:62303966 C / T
gnomAD v2:
20-62303966-C-T
gnomAD v4:
20-63672613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63672613C>T , CM000682.2:g.63672613C>T | GRCh38 |
| NC_000020.10:g.62303966C>T , CM000682.1:g.62303966C>T | GRCh37 |
| NC_000020.9:g.61774410C>T | NCBI36 |
| NG_033901.1:g.19804C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.431C>T (RTEL1) | ||
| ENST00000425905.6:c.431C>T (RTEL1) | ||
| ENST00000508582.7:c.829C>T (RTEL1) | ENSP00000424307.2:p.His277Tyr | |
| ENST00000684971.1:n.1188C>T (RTEL1) | ||
| ENST00000686756.1:n.1075C>T (RTEL1) | ||
| ENST00000687123.1:n.587C>T (RTEL1) | ||
| ENST00000692658.1:n.1195C>T (RTEL1) | ||
| ENST00000692911.1:n.1484C>T (RTEL1) | ||
| ENST00000318100.9:c.88C>T (RTEL1) | ENSP00000322287.5:p.His30Tyr | |
| ENST00000360203.11:c.757C>T (RTEL1) MANE Select | ENSP00000353332.5:p.His253Tyr | |
| ENST00000482936.6:c.757C>T (RTEL1) | ENSP00000457868.2:p.His253Tyr | |
| ENST00000318100.8:c.88C>T (RTEL1) | ENSP00000322287.5:p.His30Tyr | |
| ENST00000356810.5:c.907C>T (RTEL1) | ENSP00000349265.4:p.His303Tyr | |
| ENST00000360203.9:c.757C>T (RTEL1) | ENSP00000353332.5:p.His253Tyr | |
| ENST00000370018.7:c.757C>T (RTEL1) | ENSP00000359035.3:p.His253Tyr | |
| ENST00000463361.1:n.454C>T (RTEL1) | ||
| ENST00000482936.5:c.757C>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.His253Tyr | |
| ENST00000492259.6:c.757C>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.His253Tyr | |
| ENST00000508582.6:c.829C>T (RTEL1) | ENSP00000424307.2:p.His277Tyr | |
| NM_001283009.1:c.757C>T (RTEL1) | NP_001269938.1:p.His253Tyr | |
| NM_001283010.1:c.88C>T (RTEL1) | NP_001269939.1:p.His30Tyr | |
| NM_016434.3:c.757C>T (RTEL1) | NP_057518.1:p.His253Tyr | |
| NM_032957.4:c.829C>T (RTEL1) | NP_116575.3:p.His277Tyr | |
| NR_037882.1:n.1584C>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.757C>T (RTEL1) MANE Select | NP_001269938.1:p.His253Tyr | |
| NM_016434.4:c.757C>T (RTEL1) | NP_057518.1:p.His253Tyr | |
| NM_032957.5:c.829C>T (RTEL1) | NP_116575.3:p.His277Tyr |