Linked Data
ClinVar Variation Id:
14793
ClinVar RCV Id:
RCV000015916
dbSNP Id:
rs121912429
gnomAD v2:
15-99465391-G-A
gnomAD v3:
15-98922162-G-A
gnomAD v4:
15-98922162-G-A
PubMed:
PMID:15928254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98922162G>A , CM000677.2:g.98922162G>A | GRCh38 |
| NC_000015.9:g.99465391G>A , CM000677.1:g.99465391G>A | GRCh37 |
| NC_000015.8:g.97282914G>A | NCBI36 |
| NG_009492.1:g.277631G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649865.1:c.2216G>A | ENSP00000496919.1:p.Arg739Gln | |
| ENST00000650285.1:c.2216G>A MANE Select | ENSP00000497069.1:p.Arg739Gln | |
| ENST00000268035.10:c.2216G>A | ENSP00000268035.6:p.Arg739Gln | |
| ENST00000558762.5:c.2216G>A | ENSP00000453007.1:p.Arg739Gln | |
| ENST00000560144.1:c.445G>A | ||
| ENST00000561049.1:n.407G>A | ||
| NM_000875.4:c.2216G>A | NP_000866.1:p.Arg739Gln | |
| NM_001291858.1:c.2216G>A | NP_001278787.1:p.Arg739Gln | |
| XM_011521513.1:c.2279G>A | XP_011519815.1:p.Arg760Gln | |
| XM_011521514.1:c.2279G>A | XP_011519816.1:p.Arg760Gln | |
| XM_011521515.1:c.2279G>A | XP_011519817.1:p.Arg760Gln | |
| XM_011521516.1:c.1307G>A | XP_011519818.1:p.Arg436Gln | |
| XM_011521517.1:c.881G>A | XP_011519819.1:p.Arg294Gln | |
| XM_011521516.2:c.1307G>A | XP_011519818.1:p.Arg436Gln | |
| XM_011521517.2:c.881G>A | XP_011519819.1:p.Arg294Gln | |
| XM_017022136.1:c.2291G>A | XP_016877625.1:p.Arg764Gln | |
| XM_017022137.1:c.2291G>A | XP_016877626.1:p.Arg764Gln | |
| XM_017022138.1:c.2291G>A | XP_016877627.1:p.Arg764Gln | |
| XM_017022139.1:c.1853G>A | XP_016877628.1:p.Arg618Gln | |
| XM_024449913.1:c.1307G>A | XP_024305681.1:p.Arg436Gln | |
| NM_000875.5:c.2216G>A MANE Select | NP_000866.1:p.Arg739Gln | |
| NM_001291858.2:c.2216G>A | NP_001278787.1:p.Arg739Gln |