Linked Data
ClinVar Variation Id:
216961
ClinVar RCV Id:
RCV000197519
dbSNP Id:
rs863224894
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112021424T>C , CM000664.2:g.112021424T>C | GRCh38 |
| NC_000002.11:g.112779001T>C , CM000664.1:g.112779001T>C | GRCh37 |
| NC_000002.10:g.112495472T>C | NCBI36 |
| NG_011607.1:g.127811T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.2192T>C MANE Select | ENSP00000295408.4:p.Leu731Ser | |
| ENST00000295408.8:c.2192T>C | ENSP00000295408.4:p.Leu731Ser | |
| ENST00000409780.5:c.1664T>C | ENSP00000387277.1:p.Leu555Ser | |
| ENST00000421804.6:c.2192T>C | ENSP00000389152.2:p.Leu731Ser | |
| ENST00000439966.5:c.*1665T>C | ENSP00000402129.1:n.*1665T>C | |
| ENST00000449344.2:c.164T>C | ENSP00000412660.2:p.Leu55Ser | |
| ENST00000616902.4:c.1148T>C | ENSP00000482824.1:p.Leu383Ser | |
| NM_006343.2:c.2192T>C | NP_006334.2:p.Leu731Ser | |
| XM_005263565.3:c.2192T>C | XP_005263622.1:p.Leu731Ser | |
| XM_005263568.3:c.*48T>C | XP_005263625.1:n.*48T>C | |
| XM_011510490.1:c.2003T>C | XP_011508792.1:p.Leu668Ser | |
| XM_011510491.1:c.977T>C | XP_011508793.1:p.Leu326Ser | |
| XM_005263565.4:c.2192T>C | XP_005263622.1:p.Leu731Ser | |
| XM_011510490.3:c.2003T>C | XP_011508792.1:p.Leu668Ser | |
| XM_017003164.1:c.2003T>C | XP_016858653.1:p.Leu668Ser | |
| XM_017003165.2:c.977T>C | XP_016858654.1:p.Leu326Ser | |
| NM_006343.3:c.2192T>C MANE Select | NP_006334.2:p.Leu731Ser |