Linked Data
ClinVar Variation Id:
14790
ClinVar RCV Id:
RCV000015913
dbSNP Id:
rs121912426
PubMed:
PMID:14657428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98707880G>A , CM000677.2:g.98707880G>A | GRCh38 |
| NC_000015.9:g.99251109G>A , CM000677.1:g.99251109G>A | GRCh37 |
| NC_000015.8:g.97068632G>A | NCBI36 |
| NG_009492.1:g.63349G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649865.1:c.413G>A | ENSP00000496919.1:p.Arg138Gln | |
| ENST00000650285.1:c.413G>A MANE Select | ENSP00000497069.1:p.Arg138Gln | |
| ENST00000268035.10:c.413G>A | ENSP00000268035.6:p.Arg138Gln | |
| ENST00000558355.1:c.50G>A | ENSP00000453630.1:p.Arg17Gln | |
| ENST00000558762.5:c.413G>A | ENSP00000453007.1:p.Arg138Gln | |
| ENST00000559925.5:n.413G>A | ||
| NM_000875.4:c.413G>A | NP_000866.1:p.Arg138Gln | |
| NM_001291858.1:c.413G>A | NP_001278787.1:p.Arg138Gln | |
| XM_011521513.1:c.413G>A | XP_011519815.1:p.Arg138Gln | |
| XM_011521514.1:c.413G>A | XP_011519816.1:p.Arg138Gln | |
| XM_011521515.1:c.413G>A | XP_011519817.1:p.Arg138Gln | |
| XM_017022136.1:c.488G>A | XP_016877625.1:p.Arg163Gln | |
| XM_017022137.1:c.488G>A | XP_016877626.1:p.Arg163Gln | |
| XM_017022138.1:c.488G>A | XP_016877627.1:p.Arg163Gln | |
| XM_017022139.1:c.50G>A | XP_016877628.1:p.Arg17Gln | |
| NM_000875.5:c.413G>A MANE Select | NP_000866.1:p.Arg138Gln | |
| NM_001291858.2:c.413G>A | NP_001278787.1:p.Arg138Gln |