Linked Data
ClinVar Variation Id:
42019
dbSNP Id:
rs370343781
ExAC:
20:62319118 G / T
gnomAD v2:
20-62319118-G-T
gnomAD v3:
20-63687765-G-T
gnomAD v4:
20-63687765-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63687765G>T , CM000682.2:g.63687765G>T | GRCh38 |
| NC_000020.10:g.62319118G>T , CM000682.1:g.62319118G>T | GRCh37 |
| NC_000020.9:g.61789562G>T | NCBI36 |
| NG_033901.1:g.34956G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1150G>T (RTEL1) | ||
| ENST00000425905.6:c.1150G>T (RTEL1) | ||
| ENST00000508582.7:c.1548G>T (RTEL1) | ENSP00000424307.2:p.Met516Ile | |
| ENST00000687123.1:n.1306G>T (RTEL1) | ||
| ENST00000318100.9:c.807G>T (RTEL1) | ENSP00000322287.5:p.Met269Ile | |
| ENST00000360203.11:c.1476G>T (RTEL1) MANE Select | ENSP00000353332.5:p.Met492Ile | |
| ENST00000482936.6:c.1476G>T (RTEL1) | ENSP00000457868.2:p.Met492Ile | |
| ENST00000318100.8:c.807G>T (RTEL1) | ENSP00000322287.5:p.Met269Ile | |
| ENST00000360203.9:c.1476G>T (RTEL1) | ENSP00000353332.5:p.Met492Ile | |
| ENST00000370018.7:c.1476G>T (RTEL1) | ENSP00000359035.3:p.Met492Ile | |
| ENST00000480273.5:n.1395G>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1476G>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Met492Ile | |
| ENST00000492259.6:c.1560G>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Met520Ile | |
| ENST00000508582.6:c.1548G>T (RTEL1) | ENSP00000424307.2:p.Met516Ile | |
| NM_001283009.1:c.1476G>T (RTEL1) | NP_001269938.1:p.Met492Ile | |
| NM_001283010.1:c.807G>T (RTEL1) | NP_001269939.1:p.Met269Ile | |
| NM_016434.3:c.1476G>T (RTEL1) | NP_057518.1:p.Met492Ile | |
| NM_032957.4:c.1548G>T (RTEL1) | NP_116575.3:p.Met516Ile | |
| NR_037882.1:n.2303G>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1476G>T (RTEL1) MANE Select | NP_001269938.1:p.Met492Ile | |
| NM_016434.4:c.1476G>T (RTEL1) | NP_057518.1:p.Met492Ile | |
| NM_032957.5:c.1548G>T (RTEL1) | NP_116575.3:p.Met516Ile |