Linked Data
ClinVar Variation Id:
886654
ClinVar RCV Id:
RCV001118946
dbSNP Id:
rs756101287
ExAC:
15:99452141 A / G
gnomAD v2:
15-99452141-A-G
gnomAD v4:
15-98908912-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98908912A>G , CM000677.2:g.98908912A>G | GRCh38 |
| NC_000015.9:g.99452141A>G , CM000677.1:g.99452141A>G | GRCh37 |
| NC_000015.8:g.97269664A>G | NCBI36 |
| NG_009492.1:g.264381A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.1462+13A>G | ENSP00000496919.1:n.1462+13A>G | |
| ENST00000650285.1:c.1462+13A>G MANE Select | ENSP00000497069.1:n.1462+13A>G | |
| ENST00000268035.10:c.1462+13A>G | ENSP00000268035.6:n.1462+13A>G | |
| ENST00000558762.5:c.1462+13A>G | ENSP00000453007.1:n.1462+13A>G | |
| ENST00000558898.1:c.553+13A>G | ENSP00000454115.1:n.553+13A>G | |
| ENST00000559582.1:n.369+13A>G | ||
| ENST00000559925.5:n.1462+13A>G | ||
| NM_000875.4:c.1462+13A>G | NP_000866.1:n.1462+13A>G | |
| NM_001291858.1:c.1462+13A>G | NP_001278787.1:n.1462+13A>G | |
| XM_011521513.1:c.1525+13A>G | XP_011519815.1:n.1525+13A>G | |
| XM_011521514.1:c.1525+13A>G | XP_011519816.1:n.1525+13A>G | |
| XM_011521515.1:c.1525+13A>G | XP_011519817.1:n.1525+13A>G | |
| XM_011521516.1:c.553+13A>G | XP_011519818.1:n.553+13A>G | |
| XM_011521517.1:c.127+13A>G | XP_011519819.1:n.127+13A>G | |
| XM_011521516.2:c.553+13A>G | XP_011519818.1:n.553+13A>G | |
| XM_011521517.2:c.127+13A>G | XP_011519819.1:n.127+13A>G | |
| XM_017022136.1:c.1537+13A>G | XP_016877625.1:n.1537+13A>G | |
| XM_017022137.1:c.1537+13A>G | XP_016877626.1:n.1537+13A>G | |
| XM_017022138.1:c.1537+13A>G | XP_016877627.1:n.1537+13A>G | |
| XM_017022139.1:c.1099+13A>G | XP_016877628.1:n.1099+13A>G | |
| XM_024449913.1:c.553+13A>G | XP_024305681.1:n.553+13A>G | |
| NM_000875.5:c.1462+13A>G MANE Select | NP_000866.1:n.1462+13A>G | |
| NM_001291858.2:c.1462+13A>G | NP_001278787.1:n.1462+13A>G |