Linked Data
ClinVar Variation Id:
436572
dbSNP Id:
rs375886371
ExAC:
20:62324487 C / T
gnomAD v2:
20-62324487-C-T
gnomAD v4:
20-63693134-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63693134C>T , CM000682.2:g.63693134C>T | GRCh38 |
| NC_000020.10:g.62324487C>T , CM000682.1:g.62324487C>T | GRCh37 |
| NC_000020.9:g.61794931C>T | NCBI36 |
| NG_033901.1:g.40325C>T | |
| NG_046961.1:g.1484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.1599-9C>T (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.2924-9C>T (RTEL1) | ENSP00000424307.2:n.2924-9C>T | |
| ENST00000318100.9:c.2183-9C>T (RTEL1) | ENSP00000322287.5:n.2183-9C>T | |
| ENST00000360203.11:c.2852-9C>T (RTEL1) MANE Select | ENSP00000353332.5:n.2852-9C>T | |
| ENST00000482936.6:c.2852-9C>T (RTEL1) | ENSP00000457868.2:n.2852-9C>T | |
| ENST00000496281.2:n.2863-9C>T (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2183-9C>T (RTEL1) | ENSP00000322287.5:n.2183-9C>T | |
| ENST00000360203.9:c.2852-9C>T (RTEL1) | ENSP00000353332.5:n.2852-9C>T | |
| ENST00000370003.2:c.587-9C>T (RTEL1) | ENSP00000359020.1:n.587-9C>T | |
| ENST00000370018.7:c.2852-9C>T (RTEL1) | ENSP00000359035.3:n.2852-9C>T | |
| ENST00000480273.5:n.2937-9C>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2852-9C>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:n.2852-9C>T | |
| ENST00000492259.6:c.*454-9C>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*454-9C>T | |
| ENST00000496281.1:n.2334-9C>T (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.731-9C>T (RTEL1) | ENSP00000425576.1:n.731-9C>T | |
| ENST00000508582.6:c.2924-9C>T (RTEL1) | ENSP00000424307.2:n.2924-9C>T | |
| NM_001283009.1:c.2852-9C>T (RTEL1) | NP_001269938.1:n.2852-9C>T | |
| NM_001283010.1:c.2183-9C>T (RTEL1) | NP_001269939.1:n.2183-9C>T | |
| NM_016434.3:c.2852-9C>T (RTEL1) | NP_057518.1:n.2852-9C>T | |
| NM_032957.4:c.2924-9C>T (RTEL1) | NP_116575.3:n.2924-9C>T | |
| NR_037882.1:n.3679-9C>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2852-9C>T (RTEL1) MANE Select | NP_001269938.1:n.2852-9C>T | |
| NM_016434.4:c.2852-9C>T (RTEL1) | NP_057518.1:n.2852-9C>T | |
| NM_032957.5:c.2924-9C>T (RTEL1) | NP_116575.3:n.2924-9C>T |