Linked Data
ClinVar Variation Id:
38939
ClinVar RCV Id:
RCV000032190
dbSNP Id:
rs121912299
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154774650G>A , CM000685.2:g.154774650G>A | GRCh38 |
| NC_000023.10:g.154002925G>A , CM000685.1:g.154002925G>A | GRCh37 |
| NC_000023.9:g.153656119G>A | NCBI36 |
| NG_009780.1:g.16895G>A , LRG_55:g.16895G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.1084G>A | ENSP00000400542.2:p.Gly362Arg | |
| ENST00000426673.6:c.*587G>A | ENSP00000407253.3:n.*587G>A | |
| ENST00000484317.6:n.989G>A | ||
| ENST00000696575.1:c.1204G>A | ENSP00000512730.1:p.Gly402Arg | |
| ENST00000696577.1:c.1204G>A | ENSP00000512731.1:p.Gly402Arg | |
| ENST00000696578.1:c.*156G>A | ENSP00000512732.1:n.*156G>A | |
| ENST00000696579.1:n.1306G>A | ||
| ENST00000696580.1:c.1117G>A | ENSP00000512733.1:p.Gly373Arg | |
| ENST00000696581.1:c.*1178G>A | ENSP00000512734.1:n.*1178G>A | |
| ENST00000696582.1:c.*410G>A | ENSP00000512735.1:n.*410G>A | |
| ENST00000696583.1:c.1165G>A | ENSP00000512736.1:p.Gly389Arg | |
| ENST00000696584.1:n.1728G>A | ||
| ENST00000696585.1:n.1847G>A | ||
| ENST00000696586.1:n.1621G>A | ||
| ENST00000696587.1:c.1084G>A | ENSP00000512737.1:p.Gly362Arg | |
| ENST00000696588.1:c.595G>A | ENSP00000513251.1:p.Gly199Arg | |
| ENST00000696589.1:n.979G>A | ||
| ENST00000696590.1:n.828G>A | ||
| ENST00000696591.1:n.553G>A | ||
| ENST00000696592.1:n.2083G>A | ||
| ENST00000696627.1:c.*30G>A | ENSP00000512764.1:n.*30G>A | |
| ENST00000696628.1:c.1204G>A | ENSP00000512765.1:p.Gly402Arg | |
| ENST00000369550.10:c.1204G>A MANE Select | ENSP00000358563.5:p.Gly402Arg | |
| ENST00000369550.9:c.1204G>A | ENSP00000358563.5:p.Gly402Arg | |
| ENST00000412124.5:c.462G>A | ||
| ENST00000426673.5:c.564G>A | ||
| ENST00000475966.1:n.693G>A | ||
| ENST00000481062.1:n.155G>A | ||
| ENST00000620277.4:c.1204G>A | ENSP00000478387.1:p.Gly402Arg | |
| NM_001142463.2:c.1204G>A | NP_001135935.1:p.Gly402Arg | |
| NM_001288747.1:c.1204G>A | NP_001275676.1:p.Gly402Arg | |
| NM_001363.4:c.1204G>A | NP_001354.1:p.Gly402Arg | |
| NR_110021.1:n.1905G>A | ||
| NR_110022.1:n.2024G>A | ||
| NR_110023.1:n.1798G>A | ||
| NM_001363.5:c.1204G>A MANE Select | NP_001354.1:p.Gly402Arg | |
| NM_001142463.3:c.1204G>A | NP_001135935.1:p.Gly402Arg | |
| NR_110021.2:n.1783G>A | ||
| NR_110022.2:n.1902G>A | ||
| NR_110023.2:n.1676G>A | ||
| NM_001288747.2:c.1204G>A | NP_001275676.1:p.Gly402Arg |