Linked Data
ClinVar Variation Id:
38956
ClinVar RCV Id:
RCV000032207
dbSNP Id:
rs121912290
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154770792C>G , CM000685.2:g.154770792C>G | GRCh38 |
| NC_000023.10:g.153999067C>G , CM000685.1:g.153999067C>G | GRCh37 |
| NC_000023.9:g.153652261C>G | NCBI36 |
| NG_009780.1:g.13037C>G , LRG_55:g.13037C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.829C>G | ENSP00000400542.2:p.Leu277Val | |
| ENST00000426673.6:c.*332C>G | ENSP00000407253.3:n.*332C>G | |
| ENST00000484317.6:n.734C>G | ||
| ENST00000696575.1:c.949C>G | ENSP00000512730.1:p.Leu317Val | |
| ENST00000696577.1:c.949C>G | ENSP00000512731.1:p.Leu317Val | |
| ENST00000696578.1:c.915+1482C>G | ENSP00000512732.1:n.915+1482C>G | |
| ENST00000696579.1:n.1051C>G | ||
| ENST00000696580.1:c.862C>G | ENSP00000512733.1:p.Leu288Val | |
| ENST00000696581.1:c.*923C>G | ENSP00000512734.1:n.*923C>G | |
| ENST00000696582.1:c.*155C>G | ENSP00000512735.1:n.*155C>G | |
| ENST00000696583.1:c.910C>G | ENSP00000512736.1:p.Leu304Val | |
| ENST00000696584.1:n.1473C>G | ||
| ENST00000696585.1:n.1592C>G | ||
| ENST00000696586.1:n.1366C>G | ||
| ENST00000696587.1:c.829C>G | ENSP00000512737.1:p.Leu277Val | |
| ENST00000696588.1:c.340C>G | ENSP00000513251.1:p.Leu114Val | |
| ENST00000696589.1:n.724C>G | ||
| ENST00000696590.1:n.573C>G | ||
| ENST00000696591.1:n.298C>G | ||
| ENST00000696627.1:c.949C>G | ENSP00000512764.1:p.Leu317Val | |
| ENST00000696628.1:c.949C>G | ENSP00000512765.1:p.Leu317Val | |
| ENST00000369550.10:c.949C>G MANE Select | ENSP00000358563.5:p.Leu317Val | |
| ENST00000369550.9:c.949C>G | ENSP00000358563.5:p.Leu317Val | |
| ENST00000412124.5:c.207C>G | ||
| ENST00000426673.5:c.309C>G | ||
| ENST00000475966.1:n.438C>G | ||
| ENST00000484317.5:n.587C>G | ||
| ENST00000620277.4:c.949C>G | ENSP00000478387.1:p.Leu317Val | |
| NM_001142463.2:c.949C>G | NP_001135935.1:p.Leu317Val | |
| NM_001288747.1:c.949C>G | NP_001275676.1:p.Leu317Val | |
| NM_001363.4:c.949C>G | NP_001354.1:p.Leu317Val | |
| NR_110021.1:n.1650C>G | ||
| NR_110022.1:n.1769C>G | ||
| NR_110023.1:n.1543C>G | ||
| NM_001363.5:c.949C>G MANE Select | NP_001354.1:p.Leu317Val | |
| NM_001142463.3:c.949C>G | NP_001135935.1:p.Leu317Val | |
| NR_110021.2:n.1528C>G | ||
| NR_110022.2:n.1647C>G | ||
| NR_110023.2:n.1421C>G | ||
| NM_001288747.2:c.949C>G | NP_001275676.1:p.Leu317Val |