Linked Data
ClinVar Variation Id:
38932
ClinVar RCV Id:
RCV000032183
dbSNP Id:
rs121912298
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154773144G>A , CM000685.2:g.154773144G>A | GRCh38 |
| NC_000023.10:g.154001419G>A , CM000685.1:g.154001419G>A | GRCh37 |
| NC_000023.9:g.153654613G>A | NCBI36 |
| NG_009780.1:g.15389G>A , LRG_55:g.15389G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.930G>A | ENSP00000400542.2:p.Met310Ile | |
| ENST00000426673.6:c.*433G>A | ENSP00000407253.3:n.*433G>A | |
| ENST00000484317.6:n.835G>A | ||
| ENST00000696575.1:c.1050G>A | ENSP00000512730.1:p.Met350Ile | |
| ENST00000696577.1:c.1050G>A | ENSP00000512731.1:p.Met350Ile | |
| ENST00000696578.1:c.*2G>A | ENSP00000512732.1:n.*2G>A | |
| ENST00000696579.1:n.1152G>A | ||
| ENST00000696580.1:c.963G>A | ENSP00000512733.1:p.Met321Ile | |
| ENST00000696581.1:c.*1024G>A | ENSP00000512734.1:n.*1024G>A | |
| ENST00000696582.1:c.*256G>A | ENSP00000512735.1:n.*256G>A | |
| ENST00000696583.1:c.1011G>A | ENSP00000512736.1:p.Met337Ile | |
| ENST00000696584.1:n.1574G>A | ||
| ENST00000696585.1:n.1693G>A | ||
| ENST00000696586.1:n.1467G>A | ||
| ENST00000696587.1:c.930G>A | ENSP00000512737.1:p.Met310Ile | |
| ENST00000696588.1:c.441G>A | ENSP00000513251.1:p.Met147Ile | |
| ENST00000696589.1:n.825G>A | ||
| ENST00000696590.1:n.674G>A | ||
| ENST00000696591.1:n.399G>A | ||
| ENST00000696592.1:n.1929G>A | ||
| ENST00000696627.1:c.1050G>A | ENSP00000512764.1:p.Met350Ile | |
| ENST00000696628.1:c.1050G>A | ENSP00000512765.1:p.Met350Ile | |
| ENST00000369550.10:c.1050G>A MANE Select | ENSP00000358563.5:p.Met350Ile | |
| ENST00000369550.9:c.1050G>A | ENSP00000358563.5:p.Met350Ile | |
| ENST00000412124.5:c.308G>A | ||
| ENST00000426673.5:c.410G>A | ||
| ENST00000475966.1:n.539G>A | ||
| ENST00000481062.1:n.1G>A | ||
| ENST00000620277.4:c.1050G>A | ENSP00000478387.1:p.Met350Ile | |
| NM_001142463.2:c.1050G>A | NP_001135935.1:p.Met350Ile | |
| NM_001288747.1:c.1050G>A | NP_001275676.1:p.Met350Ile | |
| NM_001363.4:c.1050G>A | NP_001354.1:p.Met350Ile | |
| NR_110021.1:n.1751G>A | ||
| NR_110022.1:n.1870G>A | ||
| NR_110023.1:n.1644G>A | ||
| NM_001363.5:c.1050G>A MANE Select | NP_001354.1:p.Met350Ile | |
| NM_001142463.3:c.1050G>A | NP_001135935.1:p.Met350Ile | |
| NR_110021.2:n.1629G>A | ||
| NR_110022.2:n.1748G>A | ||
| NR_110023.2:n.1522G>A | ||
| NM_001288747.2:c.1050G>A | NP_001275676.1:p.Met350Ile |