Linked Data
ClinVar Variation Id:
65471
ClinVar RCV Id:
RCV000055661
dbSNP Id:
rs397515329
PubMed:
PMID:23249953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119100402A>G , CM000673.2:g.119100402A>G | GRCh38 |
| NC_000011.9:g.118971112A>G , CM000673.1:g.118971112A>G | GRCh37 |
| NC_000011.8:g.118476322A>G | NCBI36 |
| NG_008918.1:g.6674T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.679T>C | ||
| ENST00000530052.2:n.1245T>C | ||
| ENST00000682191.1:n.705T>C | ||
| ENST00000682192.1:n.705T>C | ||
| ENST00000682232.1:c.*208T>C | ENSP00000507302.1:n.*208T>C | |
| ENST00000682326.1:c.503T>C | ENSP00000508129.1:p.Leu168Pro | |
| ENST00000682404.1:n.1245T>C | ||
| ENST00000682517.1:n.1245T>C | ||
| ENST00000682652.1:n.1474T>C | ||
| ENST00000682665.1:n.900T>C | ||
| ENST00000682691.1:n.900T>C | ||
| ENST00000682791.1:c.416T>C | ENSP00000507312.1:p.Leu139Pro | |
| ENST00000682811.1:c.503T>C | ENSP00000508196.1:p.Leu168Pro | |
| ENST00000682883.1:n.806T>C | ||
| ENST00000682946.1:c.503T>C | ENSP00000506856.1:p.Leu168Pro | |
| ENST00000683143.1:c.*208T>C | ENSP00000507168.1:n.*208T>C | |
| ENST00000683373.1:n.705T>C | ||
| ENST00000683558.1:n.705T>C | ||
| ENST00000683567.1:n.730T>C | ||
| ENST00000683955.1:n.900T>C | ||
| ENST00000684142.1:c.*178T>C | ENSP00000508008.1:n.*178T>C | |
| ENST00000684252.1:n.900T>C | ||
| ENST00000684255.1:c.*208T>C | ENSP00000507398.1:n.*208T>C | |
| ENST00000684315.1:n.1236T>C | ||
| ENST00000684345.1:c.*178T>C | ENSP00000507163.1:n.*178T>C | |
| ENST00000684499.1:c.*608T>C | ENSP00000506800.1:n.*608T>C | |
| ENST00000684682.1:c.168T>C | ENSP00000507326.1:p.Pro56= | |
| ENST00000354202.9:c.503T>C MANE Select | ENSP00000346142.4:p.Leu168Pro | |
| ENST00000636404.1:c.7T>C | ||
| ENST00000638850.1:c.7T>C | ||
| ENST00000639704.1:c.410T>C | ENSP00000491336.1:p.Leu137Pro | |
| ENST00000640102.1:c.*156T>C | ENSP00000492027.1:n.*156T>C | |
| ENST00000640747.1:c.*178T>C | ENSP00000492730.1:n.*178T>C | |
| ENST00000354202.8:c.503T>C | ENSP00000346142.4:p.Leu168Pro | |
| ENST00000392834.7:c.*208T>C | ENSP00000376579.3:n.*208T>C | |
| ENST00000409993.6:c.503T>C | ENSP00000386597.2:p.Leu168Pro | |
| ENST00000414373.5:c.*249T>C | ENSP00000402019.1:n.*249T>C | |
| ENST00000442480.1:c.353T>C | ENSP00000406591.1:p.Leu118Pro | |
| ENST00000461999.1:n.8T>C | ||
| ENST00000481084.5:n.1132T>C | ||
| ENST00000525456.5:n.506T>C | ||
| ENST00000530052.1:n.401T>C | ||
| ENST00000533687.1:n.515T>C | ||
| NM_001382.3:c.503T>C | NP_001373.2:p.Leu168Pro | |
| XM_005271422.2:c.503T>C | XP_005271479.1:p.Leu168Pro | |
| XM_011542648.1:c.182T>C | XP_011540950.1:p.Leu61Pro | |
| XR_947801.1:n.939T>C | ||
| XM_005271422.3:c.503T>C | XP_005271479.1:p.Leu168Pro | |
| XM_011542648.2:c.182T>C | XP_011540950.1:p.Leu61Pro | |
| XM_017017293.2:c.182T>C | XP_016872782.1:p.Leu61Pro | |
| XM_017017294.2:c.503T>C | XP_016872783.1:p.Leu168Pro | |
| XM_017017295.1:c.-14T>C | XP_016872784.1:n.-14T>C | |
| XR_001747785.2:n.726T>C | ||
| XR_947801.2:n.726T>C | ||
| NM_001382.4:c.503T>C MANE Select | NP_001373.2:p.Leu168Pro |