Linked Data
ClinVar Variation Id:
42022
dbSNP Id:
rs398123019
gnomAD v2:
20-62303960-G-A
gnomAD v4:
20-63672607-G-A
PubMed:
PMID:23453664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63672607G>A , CM000682.2:g.63672607G>A | GRCh38 |
| NC_000020.10:g.62303960G>A , CM000682.1:g.62303960G>A | GRCh37 |
| NC_000020.9:g.61774404G>A | NCBI36 |
| NG_033901.1:g.19798G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425905.7:n.425G>A (RTEL1) | ||
| ENST00000425905.6:c.425G>A (RTEL1) | ||
| ENST00000508582.7:c.823G>A (RTEL1) | ENSP00000424307.2:p.Glu275Lys | |
| ENST00000684971.1:n.1182G>A (RTEL1) | ||
| ENST00000686756.1:n.1069G>A (RTEL1) | ||
| ENST00000687123.1:n.581G>A (RTEL1) | ||
| ENST00000692658.1:n.1189G>A (RTEL1) | ||
| ENST00000692911.1:n.1478G>A (RTEL1) | ||
| ENST00000318100.9:c.82G>A (RTEL1) | ENSP00000322287.5:p.Glu28Lys | |
| ENST00000360203.11:c.751G>A (RTEL1) MANE Select | ENSP00000353332.5:p.Glu251Lys | |
| ENST00000482936.6:c.751G>A (RTEL1) | ENSP00000457868.2:p.Glu251Lys | |
| ENST00000318100.8:c.82G>A (RTEL1) | ENSP00000322287.5:p.Glu28Lys | |
| ENST00000356810.5:c.901G>A (RTEL1) | ENSP00000349265.4:p.Glu301Lys | |
| ENST00000360203.9:c.751G>A (RTEL1) | ENSP00000353332.5:p.Glu251Lys | |
| ENST00000370018.7:c.751G>A (RTEL1) | ENSP00000359035.3:p.Glu251Lys | |
| ENST00000463361.1:n.448G>A (RTEL1) | ||
| ENST00000482936.5:c.751G>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Glu251Lys | |
| ENST00000492259.6:c.751G>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Glu251Lys | |
| ENST00000508582.6:c.823G>A (RTEL1) | ENSP00000424307.2:p.Glu275Lys | |
| NM_001283009.1:c.751G>A (RTEL1) | NP_001269938.1:p.Glu251Lys | |
| NM_001283010.1:c.82G>A (RTEL1) | NP_001269939.1:p.Glu28Lys | |
| NM_016434.3:c.751G>A (RTEL1) | NP_057518.1:p.Glu251Lys | |
| NM_032957.4:c.823G>A (RTEL1) | NP_116575.3:p.Glu275Lys | |
| NR_037882.1:n.1578G>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.751G>A (RTEL1) MANE Select | NP_001269938.1:p.Glu251Lys | |
| NM_016434.4:c.751G>A (RTEL1) | NP_057518.1:p.Glu251Lys | |
| NM_032957.5:c.823G>A (RTEL1) | NP_116575.3:p.Glu275Lys |