Linked Data
ClinVar Variation Id:
235830
ClinVar RCV Id:
RCV000224385
dbSNP Id:
rs878853127
PubMed:
PMID:25683120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101068026A>C , CM000675.2:g.101068026A>C | GRCh38 |
| NC_000013.10:g.101720378A>C , CM000675.1:g.101720378A>C | GRCh37 |
| NC_000013.9:g.100518379A>C | NCBI36 |
| NG_053176.1:g.354181T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.4338T>G MANE Select | ENSP00000251127.6:p.Ile1446Met | |
| ENST00000648359.1:c.4338T>G | ENSP00000497465.1:p.Ile1446Met | |
| ENST00000675150.1:c.4059T>G | ENSP00000502680.1:p.Ile1353Met | |
| ENST00000675332.1:c.4425T>G | ENSP00000501955.1:p.Ile1475Met | |
| ENST00000676315.1:c.4251T>G | ENSP00000501603.1:p.Ile1417Met | |
| ENST00000251127.10:c.4338T>G | ENSP00000251127.6:p.Ile1446Met | |
| NM_052867.2:c.4338T>G | NP_443099.1:p.Ile1446Met | |
| XM_011521067.1:c.4395T>G | XP_011519369.1:p.Ile1465Met | |
| XM_011521068.1:c.4338T>G | XP_011519370.1:p.Ile1446Met | |
| XM_011521069.1:c.4308T>G | XP_011519371.1:p.Ile1436Met | |
| XM_011521070.1:c.4116T>G | XP_011519372.1:p.Ile1372Met | |
| NM_001350748.1:c.4425T>G | NP_001337677.1:p.Ile1475Met | |
| NM_001350749.1:c.4338T>G | NP_001337678.1:p.Ile1446Met | |
| NM_001350750.1:c.4251T>G | NP_001337679.1:p.Ile1417Met | |
| NM_001350751.1:c.4251T>G | NP_001337680.1:p.Ile1417Met | |
| NM_052867.3:c.4338T>G | NP_443099.1:p.Ile1446Met | |
| XM_011521067.2:c.4395T>G | XP_011519369.1:p.Ile1465Met | |
| XM_011521069.2:c.4308T>G | XP_011519371.1:p.Ile1436Met | |
| XM_017020536.2:c.3891T>G | XP_016876025.1:p.Ile1297Met | |
| XM_017020537.1:c.3573T>G | XP_016876026.1:p.Ile1191Met | |
| XM_024449336.1:c.4482T>G | XP_024305104.1:p.Ile1494Met | |
| NM_052867.4:c.4338T>G MANE Select | NP_443099.1:p.Ile1446Met | |
| NM_001350748.2:c.4425T>G | NP_001337677.1:p.Ile1475Met | |
| NM_001350749.2:c.4338T>G | NP_001337678.1:p.Ile1446Met | |
| NM_001350750.2:c.4251T>G | NP_001337679.1:p.Ile1417Met | |
| NM_001350751.2:c.4251T>G | NP_001337680.1:p.Ile1417Met |