Linked Data
ClinVar Variation Id:
403403
dbSNP Id:
rs41309931
ExAC:
20:62326579 G / T
gnomAD v2:
20-62326579-G-T
gnomAD v3:
20-63695226-G-T
gnomAD v4:
20-63695226-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63695226G>T , CM000682.2:g.63695226G>T | GRCh38 |
| NC_000020.10:g.62326579G>T , CM000682.1:g.62326579G>T | GRCh37 |
| NC_000020.9:g.61797023G>T | NCBI36 |
| NG_033901.1:g.42417G>T | |
| NG_046961.1:g.3576G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.2246+5G>T (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.3571+5G>T (RTEL1) | ENSP00000424307.2:n.3571+5G>T | |
| ENST00000318100.9:c.2830+5G>T (RTEL1) | ENSP00000322287.5:n.2830+5G>T | |
| ENST00000360203.11:c.3499+5G>T (RTEL1) MANE Select | ENSP00000353332.5:n.3499+5G>T | |
| ENST00000496281.2:n.3510+5G>T (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2830+5G>T (RTEL1) | ENSP00000322287.5:n.2830+5G>T | |
| ENST00000360203.9:c.3499+5G>T (RTEL1) | ENSP00000353332.5:n.3499+5G>T | |
| ENST00000370003.2:c.1234+5G>T (RTEL1) | ENSP00000359020.1:n.1234+5G>T | |
| ENST00000370018.7:c.3499+5G>T (RTEL1) | ENSP00000359035.3:n.3499+5G>T | |
| ENST00000480273.5:n.3584+5G>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.3499+5G>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:n.3499+5G>T | |
| ENST00000492259.6:c.*1101+5G>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*1101+5G>T | |
| ENST00000496281.1:n.2981+5G>T (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.1431+5G>T (RTEL1) | ENSP00000425576.1:n.1431+5G>T | |
| ENST00000508582.6:c.3571+5G>T (RTEL1) | ENSP00000424307.2:n.3571+5G>T | |
| NM_001283009.1:c.3499+5G>T (RTEL1) | NP_001269938.1:n.3499+5G>T | |
| NM_001283010.1:c.2830+5G>T (RTEL1) | NP_001269939.1:n.2830+5G>T | |
| NM_016434.3:c.3499+5G>T (RTEL1) | NP_057518.1:n.3499+5G>T | |
| NM_032957.4:c.3571+5G>T (RTEL1) | NP_116575.3:n.3571+5G>T | |
| NR_037882.1:n.4326+5G>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.3499+5G>T (RTEL1) MANE Select | NP_001269938.1:n.3499+5G>T | |
| NM_016434.4:c.3499+5G>T (RTEL1) | NP_057518.1:n.3499+5G>T | |
| NM_032957.5:c.3571+5G>T (RTEL1) | NP_116575.3:n.3571+5G>T |