Linked Data
ClinVar Variation Id:
187905
ClinVar RCV Id:
RCV000167625
dbSNP Id:
rs786204037
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11790768A>G , CM000663.2:g.11790768A>G | GRCh38 |
| NC_000001.10:g.11850825A>G , CM000663.1:g.11850825A>G | GRCh37 |
| NC_000001.9:g.11773412A>G | NCBI36 |
| NG_013351.1:g.20336T>C , LRG_726:g.20336T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.2006T>C | ENSP00000365770.1:p.Leu669Pro | |
| ENST00000376590.9:c.1883T>C MANE Select | ENSP00000365775.3:p.Leu628Pro | |
| ENST00000376592.6:c.1883T>C | ENSP00000365777.1:p.Leu628Pro | |
| ENST00000423400.7:c.2003T>C | ENSP00000398908.3:p.Leu668Pro | |
| ENST00000641407.1:c.1753-52T>C | ENSP00000493098.1:n.1753-52T>C | |
| ENST00000641446.1:c.*342T>C | ENSP00000493262.1:n.*342T>C | |
| ENST00000641747.1:c.*1395T>C | ENSP00000493116.1:n.*1395T>C | |
| ENST00000641759.1:n.2252T>C | ||
| ENST00000641805.1:n.2270-52T>C | ||
| ENST00000641820.1:c.1148T>C | ENSP00000492937.1:p.Leu383Pro | |
| ENST00000376583.7:c.2006T>C | ENSP00000365767.3:p.Leu669Pro | |
| ENST00000376585.5:c.2006T>C | ENSP00000365770.1:p.Leu669Pro | |
| ENST00000376590.7:c.1883T>C | ENSP00000365775.3:p.Leu628Pro | |
| ENST00000376592.5:c.1883T>C | ENSP00000365777.1:p.Leu628Pro | |
| NM_005957.4:c.1883T>C , LRG_726t1:c.1883T>C | NP_005948.3:p.Leu628Pro | |
| XM_005263458.2:c.2006T>C | XP_005263515.1:p.Leu669Pro | |
| XM_005263460.3:c.1883T>C | XP_005263517.1:p.Leu628Pro | |
| XM_005263461.3:c.1883T>C | XP_005263518.1:p.Leu628Pro | |
| XM_005263462.3:c.1883T>C | XP_005263519.1:p.Leu628Pro | |
| XM_005263463.2:c.1637T>C | XP_005263520.1:p.Leu546Pro | |
| XM_011541495.1:c.2003T>C | XP_011539797.1:p.Leu668Pro | |
| XM_011541496.1:c.1876-52T>C | XP_011539798.1:n.1876-52T>C | |
| NM_001330358.1:c.2006T>C | NP_001317287.1:p.Leu669Pro | |
| XM_005263460.5:c.1883T>C | XP_005263517.1:p.Leu628Pro | |
| XM_005263462.4:c.1883T>C | XP_005263519.1:p.Leu628Pro | |
| XM_005263463.4:c.1637T>C | XP_005263520.1:p.Leu546Pro | |
| XM_011541495.3:c.2003T>C | XP_011539797.1:p.Leu668Pro | |
| XM_011541496.3:c.1876-52T>C | XP_011539798.1:n.1876-52T>C | |
| XM_017001328.2:c.1876-20T>C | XP_016856817.1:n.1876-20T>C | |
| XM_024447198.1:c.1637T>C | XP_024302966.1:p.Leu546Pro | |
| XR_002956640.1:n.2854-52T>C | ||
| NM_005957.5:c.1883T>C MANE Select | NP_005948.3:p.Leu628Pro | |
| NM_001330358.2:c.2006T>C | NP_001317287.1:p.Leu669Pro |