Linked Data
ClinVar Variation Id:
1149896
ClinVar RCV Id:
RCV001490296
dbSNP Id:
rs1297204312
gnomAD v2:
20-62326958-C-T
gnomAD v3:
20-63695605-C-T
gnomAD v4:
20-63695605-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63695605C>T , CM000682.2:g.63695605C>T | GRCh38 |
| NC_000020.10:g.62326958C>T , CM000682.1:g.62326958C>T | GRCh37 |
| NC_000020.9:g.61797402C>T | NCBI36 |
| NG_033901.1:g.42796C>T | |
| NG_046961.1:g.3955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.2524C>T (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.3724+125C>T (RTEL1) | ENSP00000424307.2:n.3724+125C>T | |
| ENST00000318100.9:c.2983+125C>T (RTEL1) | ENSP00000322287.5:n.2983+125C>T | |
| ENST00000360203.11:c.3777C>T (RTEL1) MANE Select | ENSP00000353332.5:p.Ala1259= | |
| ENST00000496281.2:n.3788C>T (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2983+125C>T (RTEL1) | ENSP00000322287.5:n.2983+125C>T | |
| ENST00000360203.9:c.3777C>T (RTEL1) | ENSP00000353332.5:p.Ala1259= | |
| ENST00000370003.2:c.1512C>T (RTEL1) | ENSP00000359020.1:p.Ala504= | |
| ENST00000370018.7:c.3652+125C>T (RTEL1) | ENSP00000359035.3:n.3652+125C>T | |
| ENST00000480273.5:n.3737+125C>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.3777C>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Ala1259= | |
| ENST00000492259.6:c.*1254+125C>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*1254+125C>T | |
| ENST00000496281.1:n.3259C>T (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.1709C>T (RTEL1) | ENSP00000425576.1:n.1709C>T | |
| ENST00000508582.6:c.3724+125C>T (RTEL1) | ENSP00000424307.2:n.3724+125C>T | |
| NM_001283009.1:c.3777C>T (RTEL1) | NP_001269938.1:p.Ala1259= | |
| NM_001283010.1:c.2983+125C>T (RTEL1) | NP_001269939.1:n.2983+125C>T | |
| NM_016434.3:c.3652+125C>T (RTEL1) | NP_057518.1:n.3652+125C>T | |
| NM_032957.4:c.3724+125C>T (RTEL1) | NP_116575.3:n.3724+125C>T | |
| NR_037882.1:n.4604C>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.3777C>T (RTEL1) MANE Select | NP_001269938.1:p.Ala1259= | |
| NM_016434.4:c.3652+125C>T (RTEL1) | NP_057518.1:n.3652+125C>T | |
| NM_032957.5:c.3724+125C>T (RTEL1) | NP_116575.3:n.3724+125C>T |