Linked Data
ClinVar Variation Id:
297904
ClinVar RCV Id:
RCV000399468
dbSNP Id:
rs3007417
ExAC:
1:6526183 G / A
gnomAD v2:
1-6526183-G-A
gnomAD v3:
1-6466123-G-A
gnomAD v4:
1-6466123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6466123G>A , CM000663.2:g.6466123G>A | GRCh38 |
| NC_000001.10:g.6526183G>A , CM000663.1:g.6526183G>A | GRCh37 |
| NC_000001.9:g.6448770G>A | NCBI36 |
| NG_007978.1:g.58887C>T , LRG_262:g.58887C>T | |
| NG_029910.1:g.5073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356876.8:c.-16C>T (TNFRSF25) MANE Select | ENSP00000349341.3:n.-16C>T | |
| ENST00000340850.9:c.*1440C>T (PLEKHG5) | ENSP00000344570.5:n.*1440C>T | |
| ENST00000351959.9:c.-16C>T (TNFRSF25) | ENSP00000337713.5:n.-16C>T | |
| ENST00000356876.7:c.-16C>T (TNFRSF25) | ENSP00000349341.3:n.-16C>T | |
| ENST00000377748.5:c.*1440C>T (PLEKHG5) | ENSP00000366977.1:n.*1440C>T | |
| ENST00000377782.7:c.-16C>T (TNFRSF25) | ENSP00000367013.3:n.-16C>T | |
| ENST00000400913.5:c.*1440C>T (PLEKHG5) | ENSP00000383704.1:n.*1440C>T | |
| ENST00000480393.5:c.-16C>T (TNFRSF25) | ENSP00000434129.1:n.-16C>T | |
| ENST00000485036.5:c.-16C>T (TNFRSF25) | ENSP00000431554.1:n.-16C>T | |
| ENST00000489097.5:n.4937C>T (PLEKHG5) | ||
| ENST00000535355.5:c.*1440C>T (PLEKHG5) | ENSP00000441445.1:n.*1440C>T | |
| ENST00000537245.5:c.*1440C>T (PLEKHG5) | ENSP00000439625.1:n.*1440C>T | |
| NM_001039664.1:c.-16C>T (TNFRSF25) | NP_001034753.1:n.-16C>T | |
| NM_001042663.1:c.*1440C>T (PLEKHG5) | NP_001036128.1:n.*1440C>T | |
| NM_001042664.1:c.*1440C>T (PLEKHG5) | NP_001036129.1:n.*1440C>T | |
| NM_001042665.1:c.*1440C>T (PLEKHG5) | NP_001036130.1:n.*1440C>T | |
| NM_001265592.1:c.*1440C>T (PLEKHG5) | NP_001252521.1:n.*1440C>T | |
| NM_001265593.1:c.*1440C>T (PLEKHG5) | NP_001252522.1:n.*1440C>T | |
| NM_001265594.1:c.*1468C>T (PLEKHG5) | NP_001252523.1:n.*1468C>T | |
| NM_003790.2:c.-16C>T (TNFRSF25) | NP_003781.1:n.-16C>T | |
| NM_020631.4:c.*1440C>T (PLEKHG5) | NP_065682.2:n.*1440C>T | |
| NM_148965.1:c.-16C>T (TNFRSF25) | NP_683866.1:n.-16C>T | |
| NM_148966.1:c.-16C>T (TNFRSF25) | NP_683867.1:n.-16C>T | |
| NM_148967.1:c.-16C>T (TNFRSF25) | NP_683868.1:n.-16C>T | |
| NM_148970.1:c.-16C>T (TNFRSF25) | NP_683871.1:n.-16C>T | |
| NM_198681.3:c.*1440C>T (PLEKHG5) | NP_941374.2:n.*1440C>T | |
| NM_001042663.2:c.*1440C>T (PLEKHG5) | NP_001036128.1:n.*1440C>T | |
| NM_001265594.2:c.*1468C>T (PLEKHG5) | NP_001252523.1:n.*1468C>T | |
| NM_020631.5:c.*1440C>T (PLEKHG5) | NP_065682.2:n.*1440C>T | |
| NM_001039664.2:c.-16C>T (TNFRSF25) | NP_001034753.1:n.-16C>T | |
| NM_003790.3:c.-16C>T (TNFRSF25) MANE Select | NP_003781.1:n.-16C>T | |
| NM_148965.2:c.-16C>T (TNFRSF25) | NP_683866.1:n.-16C>T | |
| NM_148966.2:c.-16C>T (TNFRSF25) | NP_683867.1:n.-16C>T | |
| NM_148967.2:c.-16C>T (TNFRSF25) | NP_683868.1:n.-16C>T | |
| NM_148970.2:c.-16C>T (TNFRSF25) | NP_683871.1:n.-16C>T |