Linked Data
ClinVar Variation Id:
222902
ClinVar RCV Id:
RCV000208564
dbSNP Id:
rs869025562
PubMed:
PMID:25589244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127639339A>G , CM000664.2:g.127639339A>G | GRCh38 |
| NC_000002.11:g.128396914A>G , CM000664.1:g.128396914A>G | GRCh37 |
| NC_000002.10:g.128113384A>G | NCBI36 |
| NG_042235.1:g.47448T>C | |
| NG_052848.1:g.108651A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.968T>C MANE Select | ENSP00000347240.4:p.Leu323Pro | |
| ENST00000324938.9:c.1040T>C | ENSP00000326888.5:p.Leu347Pro | |
| ENST00000355119.8:c.968T>C | ENSP00000347240.4:p.Leu323Pro | |
| ENST00000409254.1:c.512T>C | ENSP00000386907.1:p.Leu171Pro | |
| ENST00000409286.5:c.512T>C | ENSP00000386252.1:p.Leu171Pro | |
| ENST00000409455.5:c.953T>C | ENSP00000386383.1:p.Leu318Pro | |
| ENST00000409754.5:c.512T>C | ENSP00000386345.1:p.Leu171Pro | |
| ENST00000409808.6:c.953T>C | ENSP00000386637.2:p.Leu318Pro | |
| ENST00000410011.5:c.953T>C | ENSP00000387002.1:p.Leu318Pro | |
| ENST00000410038.5:c.512T>C | ENSP00000386570.1:p.Leu171Pro | |
| ENST00000413578.5:c.*178T>C | ENSP00000388611.1:n.*178T>C | |
| ENST00000426981.5:c.451T>C | ||
| ENST00000466410.5:n.1681T>C | ||
| ENST00000469300.6:n.3893T>C | ||
| ENST00000476932.5:n.1356T>C | ||
| ENST00000484252.5:n.1188T>C | ||
| ENST00000494613.5:n.224T>C | ||
| ENST00000545738.6:c.1034T>C | ENSP00000443794.2:p.Leu345Pro | |
| ENST00000612860.4:c.692T>C | ENSP00000484949.1:p.Leu231Pro | |
| NM_001136037.2:c.1034T>C | NP_001129509.2:p.Leu345Pro | |
| NM_001161403.1:c.968T>C | NP_001154875.1:p.Leu323Pro | |
| NM_001161404.1:c.953T>C | NP_001154876.1:p.Leu318Pro | |
| NM_001256542.1:c.512T>C | NP_001243471.1:p.Leu171Pro | |
| NM_017980.4:c.1040T>C | NP_060450.2:p.Leu347Pro | |
| XM_005263709.2:c.953T>C | XP_005263766.1:p.Leu318Pro | |
| XM_005263710.2:c.761T>C | XP_005263767.1:p.Leu254Pro | |
| XM_006712627.2:c.620T>C | XP_006712690.1:p.Leu207Pro | |
| XM_011511453.1:c.917T>C | XP_011509755.1:p.Leu306Pro | |
| XM_006712627.4:c.620T>C | XP_006712690.1:p.Leu207Pro | |
| XM_017004469.1:c.659T>C | XP_016859958.1:p.Leu220Pro | |
| XM_024452983.1:c.953T>C | XP_024308751.1:p.Leu318Pro | |
| XM_024452984.1:c.953T>C | XP_024308752.1:p.Leu318Pro | |
| XM_024452985.1:c.512T>C | XP_024308753.1:p.Leu171Pro | |
| XM_024452986.1:c.512T>C | XP_024308754.1:p.Leu171Pro | |
| XR_922961.2:n.1132T>C | ||
| NM_001136037.3:c.1034T>C | NP_001129509.2:p.Leu345Pro | |
| NM_001161403.2:c.968T>C | NP_001154875.1:p.Leu323Pro | |
| NM_001136037.4:c.1034T>C | NP_001129509.2:p.Leu345Pro | |
| NM_001161403.3:c.968T>C MANE Select | NP_001154875.1:p.Leu323Pro | |
| NM_001161404.2:c.953T>C | NP_001154876.1:p.Leu318Pro | |
| NM_001256542.2:c.512T>C | NP_001243471.1:p.Leu171Pro | |
| NM_017980.5:c.1040T>C | NP_060450.2:p.Leu347Pro |