Linked Data
ClinVar Variation Id:
135349
ClinVar RCV Id:
RCV000122164
dbSNP Id:
rs4870
ExAC:
1:2488153 A / G
gnomAD v2:
1-2488153-A-G
gnomAD v3:
1-2556714-A-G
gnomAD v4:
1-2556714-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2556714A>G , CM000663.2:g.2556714A>G | GRCh38 |
| NC_000001.10:g.2488153A>G , CM000663.1:g.2488153A>G | GRCh37 |
| NC_000001.9:g.2486265T>C | NCBI36 |
| NG_047096.1:g.5350A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355716.5:c.50A>G (TNFRSF14) MANE Select | ENSP00000347948.4:p.Lys17Arg | |
| ENST00000355716.4:c.50A>G (TNFRSF14) | ENSP00000347948.4:p.Lys17Arg | |
| ENST00000409119.5:c.50A>G (TNFRSF14) | ENSP00000386859.1:p.Lys17Arg | |
| ENST00000426449.5:c.50A>G (TNFRSF14) | ENSP00000411854.1:p.Lys17Arg | |
| ENST00000434817.5:c.50A>G (TNFRSF14) | ENSP00000415254.1:p.Lys17Arg | |
| ENST00000435221.6:c.50A>G (TNFRSF14) | ENSP00000399292.2:p.Lys17Arg | |
| ENST00000442392.6:n.310A>G (TNFRSF14) | ||
| ENST00000451778.5:c.50A>G (TNFRSF14) | ENSP00000399533.1:p.Lys17Arg | |
| ENST00000463471.6:n.144A>G (TNFRSF14) | ||
| ENST00000475523.5:n.70+259A>G (TNFRSF14) | ||
| ENST00000482074.6:n.309A>G (TNFRSF14) | ||
| ENST00000496064.5:n.158A>G (TNFRSF14) | ||
| NM_001297605.1:c.50A>G (TNFRSF14) | NP_001284534.1:p.Lys17Arg | |
| NM_003820.3:c.50A>G (TNFRSF14) | NP_003811.2:p.Lys17Arg | |
| NR_037844.2:n.36-18T>C (TNFRSF14-AS1) | ||
| XM_006711019.1:c.50A>G (TNFRSF14) | XP_006711082.1:p.Lys17Arg | |
| XM_006711020.2:c.50A>G (TNFRSF14) | XP_006711083.1:p.Lys17Arg | |
| XR_426638.1:n.126A>G (TNFRSF14) | ||
| XM_006711019.3:c.50A>G (TNFRSF14) | XP_006711082.1:p.Lys17Arg | |
| XM_017002720.1:c.-1145A>G (TNFRSF14) | XP_016858209.1:n.-1145A>G | |
| XR_001737512.2:n.344A>G (TNFRSF14) | ||
| XR_001737513.2:n.344A>G (TNFRSF14) | ||
| XR_426638.3:n.344A>G (TNFRSF14) | ||
| NM_001297605.2:c.50A>G (TNFRSF14) | NP_001284534.1:p.Lys17Arg | |
| NM_003820.4:c.50A>G (TNFRSF14) MANE Select | NP_003811.2:p.Lys17Arg |