Linked Data
ClinVar Variation Id:
38936
ClinVar RCV Id:
RCV000032187
dbSNP Id:
rs199422252
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154774602G>A , CM000685.2:g.154774602G>A | GRCh38 |
| NC_000023.10:g.154002877G>A , CM000685.1:g.154002877G>A | GRCh37 |
| NC_000023.9:g.153656071G>A | NCBI36 |
| NG_009780.1:g.16847G>A , LRG_55:g.16847G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.1036G>A | ENSP00000400542.2:p.Ala346Thr | |
| ENST00000426673.6:c.*539G>A | ENSP00000407253.3:n.*539G>A | |
| ENST00000484317.6:n.941G>A | ||
| ENST00000696575.1:c.1156G>A | ENSP00000512730.1:p.Ala386Thr | |
| ENST00000696577.1:c.1156G>A | ENSP00000512731.1:p.Ala386Thr | |
| ENST00000696578.1:c.*108G>A | ENSP00000512732.1:n.*108G>A | |
| ENST00000696579.1:n.1258G>A | ||
| ENST00000696580.1:c.1069G>A | ENSP00000512733.1:p.Ala357Thr | |
| ENST00000696581.1:c.*1130G>A | ENSP00000512734.1:n.*1130G>A | |
| ENST00000696582.1:c.*362G>A | ENSP00000512735.1:n.*362G>A | |
| ENST00000696583.1:c.1117G>A | ENSP00000512736.1:p.Ala373Thr | |
| ENST00000696584.1:n.1680G>A | ||
| ENST00000696585.1:n.1799G>A | ||
| ENST00000696586.1:n.1573G>A | ||
| ENST00000696587.1:c.1036G>A | ENSP00000512737.1:p.Ala346Thr | |
| ENST00000696588.1:c.547G>A | ENSP00000513251.1:p.Ala183Thr | |
| ENST00000696589.1:n.931G>A | ||
| ENST00000696590.1:n.780G>A | ||
| ENST00000696591.1:n.505G>A | ||
| ENST00000696592.1:n.2035G>A | ||
| ENST00000696627.1:c.1160-5G>A | ENSP00000512764.1:n.1160-5G>A | |
| ENST00000696628.1:c.1156G>A | ENSP00000512765.1:p.Ala386Thr | |
| ENST00000369550.10:c.1156G>A MANE Select | ENSP00000358563.5:p.Ala386Thr | |
| ENST00000369550.9:c.1156G>A | ENSP00000358563.5:p.Ala386Thr | |
| ENST00000412124.5:c.414G>A | ||
| ENST00000426673.5:c.516G>A | ||
| ENST00000475966.1:n.645G>A | ||
| ENST00000481062.1:n.107G>A | ||
| ENST00000620277.4:c.1156G>A | ENSP00000478387.1:p.Ala386Thr | |
| NM_001142463.2:c.1156G>A | NP_001135935.1:p.Ala386Thr | |
| NM_001288747.1:c.1156G>A | NP_001275676.1:p.Ala386Thr | |
| NM_001363.4:c.1156G>A | NP_001354.1:p.Ala386Thr | |
| NR_110021.1:n.1857G>A | ||
| NR_110022.1:n.1976G>A | ||
| NR_110023.1:n.1750G>A | ||
| NM_001363.5:c.1156G>A MANE Select | NP_001354.1:p.Ala386Thr | |
| NM_001142463.3:c.1156G>A | NP_001135935.1:p.Ala386Thr | |
| NR_110021.2:n.1735G>A | ||
| NR_110022.2:n.1854G>A | ||
| NR_110023.2:n.1628G>A | ||
| NM_001288747.2:c.1156G>A | NP_001275676.1:p.Ala386Thr |